Canonical Allele Identifier: CA2662982082

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019589-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019591_215019592del , CM000664.2:g.215019591_215019592del	GRCh38
NC_000002.11:g.215884315_215884316del , CM000664.1:g.215884315_215884316del	GRCh37
NC_000002.10:g.215592560_215592561del	NCBI36
NG_007074.1:g.123837_123838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1493_1494del MANE Select	ENSP00000272895.7:p.Val498GlufsTer12
ENST00000272895.11:c.1493_1494del	ENSP00000272895.7:p.Val498GlufsTer12
ENST00000389661.4:c.539_540del	ENSP00000374312.4:p.Val180GlufsTer12
NM_015657.3:c.539_540del	NP_056472.2:p.Val180GlufsTer12
NM_173076.2:c.1493_1494del	NP_775099.2:p.Val498GlufsTer12
NR_103740.1:n.1737_1738del
XM_011510951.1:c.1493_1494del	XP_011509253.1:p.Val498GlufsTer12
XM_011510952.1:c.1493_1494del	XP_011509254.1:p.Val498GlufsTer12
XM_011510951.2:c.1493_1494del	XP_011509253.1:p.Val498GlufsTer12
NM_173076.3:c.1493_1494del MANE Select	NP_775099.2:p.Val498GlufsTer12
NR_103740.2:n.1935_1936del
NM_015657.4:c.539_540del	NP_056472.2:p.Val180GlufsTer12