Canonical Allele Identifier: CA2662978473

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980503-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980505_214980506del , CM000664.2:g.214980505_214980506del	GRCh38
NC_000002.11:g.215845229_215845230del , CM000664.1:g.215845229_215845230del	GRCh37
NC_000002.10:g.215553474_215553475del	NCBI36
NG_007074.1:g.162923_162924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4718_4719del MANE Select	ENSP00000272895.7:p.His1573ProfsTer18
ENST00000272895.11:c.4718_4719del	ENSP00000272895.7:p.His1573ProfsTer18
ENST00000389661.4:c.3764_3765del	ENSP00000374312.4:p.His1255ProfsTer18
NM_015657.3:c.3764_3765del	NP_056472.2:p.His1255ProfsTer18
NM_173076.2:c.4718_4719del	NP_775099.2:p.His1573ProfsTer18
NR_103740.1:n.5018_5019del
XM_011510951.1:c.4727_4728del	XP_011509253.1:p.His1576ProfsTer18
XM_011510952.1:c.4727_4728del	XP_011509254.1:p.His1576ProfsTer18
XM_011510951.2:c.4727_4728del	XP_011509253.1:p.His1576ProfsTer18
NM_173076.3:c.4718_4719del MANE Select	NP_775099.2:p.His1573ProfsTer18
NR_103740.2:n.5216_5217del
NM_015657.4:c.3764_3765del	NP_056472.2:p.His1255ProfsTer18