Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153491_44153492insTGTG , CM000669.2:g.44153491_44153492insTGTG	GRCh38
NC_000007.13:g.44193090_44193091insTGTG , CM000669.1:g.44193090_44193091insTGTG	GRCh37
NC_000007.12:g.44159615_44159616insTGTG	NCBI36
NG_008847.1:g.40932_40933insCACA
NG_008847.2:g.49679_49680insCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.44-29_44-28insCACA	ENSP00000379142.4:n.44-29_44-28insCACA
ENST00000616242.5:c.46-29_46-28insCACA	ENSP00000482149.2:n.46-29_46-28insCACA
ENST00000682635.1:n.532-29_532-28insCACA
ENST00000345378.7:c.49-29_49-28insCACA	ENSP00000223366.2:n.49-29_49-28insCACA
ENST00000403799.8:c.46-29_46-28insCACA MANE Select	ENSP00000384247.3:n.46-29_46-28insCACA
ENST00000671824.1:c.46-29_46-28insCACA	ENSP00000500264.1:n.46-29_46-28insCACA
ENST00000673284.1:c.46-29_46-28insCACA	ENSP00000499852.1:n.46-29_46-28insCACA
ENST00000345378.6:c.49-29_49-28insCACA	ENSP00000223366.2:n.49-29_49-28insCACA
ENST00000395796.7:c.43-29_43-28insCACA	ENSP00000379142.3:n.43-29_43-28insCACA
ENST00000403799.7:c.46-29_46-28insCACA	ENSP00000384247.3:n.46-29_46-28insCACA
ENST00000437084.1:c.46-29_46-28insCACA	ENSP00000402840.1:n.46-29_46-28insCACA
ENST00000476008.1:n.481-29_481-28insCACA
ENST00000616242.4:c.43-29_43-28insCACA	ENSP00000482149.1:n.43-29_43-28insCACA
NM_000162.3:c.46-29_46-28insCACA	NP_000153.1:n.46-29_46-28insCACA
NM_033507.1:c.49-29_49-28insCACA	NP_277042.1:n.49-29_49-28insCACA
NM_033508.1:c.43-29_43-28insCACA	NP_277043.1:n.43-29_43-28insCACA
NM_000162.4:c.46-29_46-28insCACA	NP_000153.1:n.46-29_46-28insCACA
NM_001354800.1:c.46-29_46-28insCACA	NP_001341729.1:n.46-29_46-28insCACA
NM_033507.2:c.49-29_49-28insCACA	NP_277042.1:n.49-29_49-28insCACA
NM_033508.2:c.43-29_43-28insCACA	NP_277043.1:n.43-29_43-28insCACA
NM_000162.5:c.46-29_46-28insCACA MANE Select	NP_000153.1:n.46-29_46-28insCACA
NM_033507.3:c.49-29_49-28insCACA	NP_277042.1:n.49-29_49-28insCACA
NM_033508.3:c.43-29_43-28insCACA	NP_277043.1:n.43-29_43-28insCACA