Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132327578_132327581delinsCTTA , CM000671.2:g.132327578_132327581delinsCTTA	GRCh38
NC_000009.11:g.135202965_135202968delinsCTTA , CM000671.1:g.135202965_135202968delinsCTTA	GRCh37
NC_000009.10:g.134192786_134192789delinsCTTA	NCBI36
NG_007946.1:g.32405_32408delinsTAAG , LRG_268:g.32405_32408delinsTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.4017_4020delinsTAAG MANE Select	ENSP00000224140.5:p.Asn1339=
ENST00000224140.5:c.4017_4020delinsTAAG	ENSP00000224140.5:p.Asn1339=
NM_015046.5:c.4017_4020delinsTAAG , LRG_268t1:c.4017_4020delinsTAAG	NP_055861.3:p.Asn1339=
XM_005272171.1:c.4017_4020delinsTAAG	XP_005272228.1:p.Asn1339=
XM_005272172.1:c.4017_4020delinsTAAG	XP_005272229.1:p.Asn1339=
XM_005272173.1:c.4017_4020delinsTAAG	XP_005272230.1:p.Asn1339=
XM_011518404.1:c.4017_4020delinsTAAG	XP_011516706.1:p.Asn1339=
XM_011518405.1:c.4017_4020delinsTAAG	XP_011516707.1:p.Asn1339=
XM_011518406.1:c.4017_4020delinsTAAG	XP_011516708.1:p.Asn1339=
XM_011518407.1:c.4017_4020delinsTAAG	XP_011516709.1:p.Asn1339=
XM_011518408.1:c.4017_4020delinsTAAG	XP_011516710.1:p.Asn1339=
XR_929739.1:n.4201_4204delinsTAAG
NM_001351527.1:c.4017_4020delinsTAAG	NP_001338456.1:p.Asn1339=
NM_001351528.1:c.4017_4020delinsTAAG	NP_001338457.1:p.Asn1339=
NM_015046.6:c.4017_4020delinsTAAG	NP_055861.3:p.Asn1339=
XM_005272172.3:c.4017_4020delinsTAAG	XP_005272229.1:p.Asn1339=
XM_005272173.3:c.4017_4020delinsTAAG	XP_005272230.1:p.Asn1339=
XM_011518404.3:c.4017_4020delinsTAAG	XP_011516706.1:p.Asn1339=
XM_011518405.3:c.4017_4020delinsTAAG	XP_011516707.1:p.Asn1339=
XM_011518406.2:c.4017_4020delinsTAAG	XP_011516708.1:p.Asn1339=
XM_011518408.3:c.4017_4020delinsTAAG	XP_011516710.1:p.Asn1339=
XR_001746251.1:n.4201_4204delinsTAAG
XR_929739.2:n.4201_4204delinsTAAG
NM_015046.7:c.4017_4020delinsTAAG MANE Select	NP_055861.3:p.Asn1339=
NM_001351528.2:c.4017_4020delinsTAAG	NP_001338457.1:p.Asn1339=
NM_001351527.2:c.4017_4020delinsTAAG	NP_001338456.1:p.Asn1339=