Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221632_7221640delinsTCTTTGGCA , CM000679.2:g.7221632_7221640delinsTCTTTGGCA	GRCh38
NC_000017.10:g.7124951_7124959delinsTCTTTGGCA , CM000679.1:g.7124951_7124959delinsTCTTTGGCA	GRCh37
NC_000017.9:g.7065675_7065683delinsTCTTTGGCA	NCBI36
NG_007975.1:g.6799_6807delinsTCTTTGGCA
NG_008391.2:g.3411_3419delinsTGCCAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.572_580delinsTCTTTGGCA MANE Select	ENSP00000349297.5:p.Leu191=
ENST00000322910.9:c.527_535delinsTCTTTGGCA	ENSP00000325395.5:n.527_535delinsTCTTTGGCA
ENST00000350303.9:c.506_514delinsTCTTTGGCA	ENSP00000344152.5:p.Leu169=
ENST00000356839.9:c.572_580delinsTCTTTGGCA	ENSP00000349297.5:p.Leu191=
ENST00000543245.6:c.641_649delinsTCTTTGGCA	ENSP00000438689.2:p.Leu214=
ENST00000577191.5:n.649_657delinsTCTTTGGCA
ENST00000577433.5:n.780_788delinsTCTTTGGCA
ENST00000577857.5:n.388_396delinsTCTTTGGCA
ENST00000579286.5:n.753_761delinsTCTTTGGCA
ENST00000579886.2:c.410_418delinsTCTTTGGCA	ENSP00000463246.1:p.Leu137=
ENST00000580365.1:n.303_311delinsTCTTTGGCA
ENST00000581378.5:c.290_298delinsTCTTTGGCA
ENST00000581562.5:n.525-320_525-312delinsTCTTTGGCA
ENST00000583312.5:c.572_580delinsTCTTTGGCA	ENSP00000467920.1:p.Leu191=
ENST00000583760.1:n.354_362delinsTCTTTGGCA
NM_000018.3:c.572_580delinsTCTTTGGCA	NP_000009.1:p.Leu191=
NM_001033859.2:c.506_514delinsTCTTTGGCA	NP_001029031.1:p.Leu169=
NM_001270447.1:c.641_649delinsTCTTTGGCA	NP_001257376.1:p.Leu214=
NM_001270448.1:c.344_352delinsTCTTTGGCA	NP_001257377.1:p.Leu115=
XM_006721516.2:c.572_580delinsTCTTTGGCA	XP_006721579.2:p.Leu191=
XM_011523829.1:c.572_580delinsTCTTTGGCA	XP_011522131.1:p.Leu191=
XM_011523830.1:c.572_580delinsTCTTTGGCA	XP_011522132.1:p.Leu191=
XR_934021.1:n.679_687delinsTCTTTGGCA
XR_934022.1:n.679_687delinsTCTTTGGCA
XR_934023.1:n.679_687delinsTCTTTGGCA
XM_006721516.3:c.572_580delinsTCTTTGGCA	XP_006721579.2:p.Leu191=
XM_011523829.2:c.572_580delinsTCTTTGGCA	XP_011522131.1:p.Leu191=
XM_011523830.2:c.572_580delinsTCTTTGGCA	XP_011522132.1:p.Leu191=
XM_024450741.1:c.572_580delinsTCTTTGGCA	XP_024306509.1:p.Leu191=
XR_934021.2:n.631_639delinsTCTTTGGCA
XR_934022.2:n.631_639delinsTCTTTGGCA
XR_934023.2:n.631_639delinsTCTTTGGCA
NM_000018.4:c.572_580delinsTCTTTGGCA MANE Select	NP_000009.1:p.Leu191=
NM_001033859.3:c.506_514delinsTCTTTGGCA	NP_001029031.1:p.Leu169=
NM_001270447.2:c.641_649delinsTCTTTGGCA	NP_001257376.1:p.Leu214=
NM_001270448.2:c.344_352delinsTCTTTGGCA	NP_001257377.1:p.Leu115=