Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092500_43092502delinsCAG , CM000679.2:g.43092500_43092502delinsCAG	GRCh38
NC_000017.10:g.41244517_41244519delinsCAG , CM000679.1:g.41244517_41244519delinsCAG	GRCh37
NC_000017.9:g.38498043_38498045delinsCAG	NCBI36
NG_005905.2:g.125482_125484delinsCTG , LRG_292:g.125482_125484delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3093_3095delinsCTG
ENST00000461574.2:c.3029_3031delinsCTG	ENSP00000417241.2:p.Pro1010=
ENST00000470026.6:c.3029_3031delinsCTG	ENSP00000419274.2:p.Pro1010=
ENST00000473961.6:c.2903_2905delinsCTG	ENSP00000420201.2:p.Pro968=
ENST00000476777.6:c.3026_3028delinsCTG	ENSP00000417554.2:p.Pro1009=
ENST00000477152.6:c.2951_2953delinsCTG	ENSP00000419988.2:p.Pro984=
ENST00000478531.6:c.785-1470_785-1468delinsCTG	ENSP00000420412.2:n.785-1470_785-1468delinsCTG
ENST00000489037.2:c.2951_2953delinsCTG	ENSP00000420781.2:p.Pro984=
ENST00000493919.6:c.647-1470_647-1468delinsCTG	ENSP00000418819.2:n.647-1470_647-1468delinsCTG
ENST00000494123.6:c.3029_3031delinsCTG	ENSP00000419103.2:p.Pro1010=
ENST00000497488.2:c.2141_2143delinsCTG	ENSP00000418986.2:p.Pro714=
ENST00000618469.2:c.3029_3031delinsCTG	ENSP00000478114.2:p.Pro1010=
ENST00000634433.2:c.2906_2908delinsCTG	ENSP00000489431.2:p.Pro969=
ENST00000644379.2:c.3029_3031delinsCTG	ENSP00000496570.2:p.Pro1010=
ENST00000644555.2:c.647-1470_647-1468delinsCTG	ENSP00000494614.2:n.647-1470_647-1468delinsCTG
ENST00000652672.2:c.2888_2890delinsCTG	ENSP00000498906.2:p.Pro963=
ENST00000484087.6:c.665-1470_665-1468delinsCTG	ENSP00000419481.2:n.665-1470_665-1468delinsCTG
ENST00000700182.1:c.707-1470_707-1468delinsCTG	ENSP00000514849.1:n.707-1470_707-1468delinsCTG
ENST00000357654.9:c.3029_3031delinsCTG MANE Select	ENSP00000350283.3:p.Pro1010=
ENST00000471181.7:c.3029_3031delinsCTG	ENSP00000418960.2:p.Pro1010=
ENST00000352993.7:c.671-1470_671-1468delinsCTG	ENSP00000312236.5:n.671-1470_671-1468delinsCTG
ENST00000354071.7:c.3029_3031delinsCTG	ENSP00000326002.7:p.Pro1010=
ENST00000357654.7:c.3029_3031delinsCTG	ENSP00000350283.3:p.Pro1010=
ENST00000461221.5:c.2812_2814delinsCTG	ENSP00000418548.1:n.2812_2814delinsCTG
ENST00000468300.5:c.788-1470_788-1468delinsCTG	ENSP00000417148.1:n.788-1470_788-1468delinsCTG
ENST00000471181.6:c.3029_3031delinsCTG	ENSP00000418960.2:p.Pro1010=
ENST00000478531.5:c.785-1470_785-1468delinsCTG	ENSP00000420412.1:n.785-1470_785-1468delinsCTG
ENST00000484087.5:c.410-1470_410-1468delinsCTG	ENSP00000419481.1:n.410-1470_410-1468delinsCTG
ENST00000487825.5:c.413-1470_413-1468delinsCTG	ENSP00000418212.1:n.413-1470_413-1468delinsCTG
ENST00000491747.6:c.788-1470_788-1468delinsCTG	ENSP00000420705.2:n.788-1470_788-1468delinsCTG
ENST00000493795.5:c.2888_2890delinsCTG	ENSP00000418775.1:p.Pro963=
ENST00000493919.5:c.647-1470_647-1468delinsCTG	ENSP00000418819.1:n.647-1470_647-1468delinsCTG
ENST00000586385.5:c.5-28551_5-28549delinsCTG	ENSP00000465818.1:n.5-28551_5-28549delinsCTG
ENST00000591534.5:c.-43-17981_-43-17979delinsCTG	ENSP00000467329.1:n.-43-17981_-43-17979delinsCTG
ENST00000591849.5:c.-99+32769_-99+32771delinsCTG	ENSP00000465347.1:n.-99+32769_-99+32771delinsCTG
NM_007294.3:c.3029_3031delinsCTG , LRG_292t1:c.3029_3031delinsCTG	NP_009225.1:p.Pro1010=
NM_007297.3:c.2888_2890delinsCTG	NP_009228.2:p.Pro963=
NM_007298.3:c.788-1470_788-1468delinsCTG	NP_009229.2:n.788-1470_788-1468delinsCTG
NM_007299.3:c.788-1470_788-1468delinsCTG	NP_009230.2:n.788-1470_788-1468delinsCTG
NM_007300.3:c.3029_3031delinsCTG	NP_009231.2:p.Pro1010=
NR_027676.1:n.3165_3167delinsCTG
NM_007294.4:c.3029_3031delinsCTG MANE Select	NP_009225.1:p.Pro1010=
NM_007297.4:c.2888_2890delinsCTG	NP_009228.2:p.Pro963=
NM_007299.4:c.788-1470_788-1468delinsCTG	NP_009230.2:n.788-1470_788-1468delinsCTG
NM_007300.4:c.3029_3031delinsCTG	NP_009231.2:p.Pro1010=
NR_027676.2:n.3206_3208delinsCTG