Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18535762_18535763del , CM000682.2:g.18535762_18535763del	GRCh38
NC_000020.10:g.18516406_18516407del , CM000682.1:g.18516406_18516407del	GRCh37
NC_000020.9:g.18464406_18464407del	NCBI36
NG_016281.1:g.33219_33220del
NG_016281.2:g.33281_33282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.1404+20_1404+21del	ENSP00000338844.3:n.1404+20_1404+21del
ENST00000377465.6:c.1404+20_1404+21del	ENSP00000366685.1:n.1404+20_1404+21del
ENST00000643747.1:c.1350+20_1350+21del	ENSP00000496460.1:n.1350+20_1350+21del
ENST00000650089.1:c.1404+20_1404+21del MANE Select	ENSP00000497473.1:n.1404+20_1404+21del
ENST00000262544.6:c.1404+20_1404+21del	ENSP00000262544.2:n.1404+20_1404+21del
ENST00000336714.7:c.1404+20_1404+21del	ENSP00000338844.3:n.1404+20_1404+21del
ENST00000377465.5:c.1404+20_1404+21del	ENSP00000366685.1:n.1404+20_1404+21del
ENST00000377475.7:c.1404+20_1404+21del	ENSP00000366695.3:n.1404+20_1404+21del
NM_001172745.1:c.1404+20_1404+21del	NP_001166216.1:n.1404+20_1404+21del
NM_001172746.1:c.1350+20_1350+21del	NP_001166217.1:n.1350+20_1350+21del
NM_006363.4:c.1404+20_1404+21del	NP_006354.2:n.1404+20_1404+21del
NM_032985.4:c.1404+20_1404+21del	NP_116780.1:n.1404+20_1404+21del
NM_032986.3:c.1404+20_1404+21del	NP_116781.1:n.1404+20_1404+21del
NM_001172745.2:c.1404+20_1404+21del	NP_001166216.1:n.1404+20_1404+21del
NM_001172746.2:c.1350+20_1350+21del	NP_001166217.1:n.1350+20_1350+21del
NM_006363.6:c.1404+20_1404+21del MANE Select	NP_006354.2:n.1404+20_1404+21del
NM_032985.5:c.1404+20_1404+21del	NP_116780.1:n.1404+20_1404+21del
NM_032986.4:c.1404+20_1404+21del	NP_116781.1:n.1404+20_1404+21del
XM_017027593.1:c.1404+20_1404+21del	XP_016883082.1:n.1404+20_1404+21del
NM_001172745.3:c.1404+20_1404+21del	NP_001166216.1:n.1404+20_1404+21del
NM_001172746.3:c.1350+20_1350+21del	NP_001166217.1:n.1350+20_1350+21del
NM_032985.6:c.1404+20_1404+21del	NP_116780.1:n.1404+20_1404+21del
NM_032986.5:c.1404+20_1404+21del	NP_116781.1:n.1404+20_1404+21del