Canonical Allele Identifier: CA2662980287

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011448-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011451del , CM000664.2:g.215011451del	GRCh38
NC_000002.11:g.215876175del , CM000664.1:g.215876175del	GRCh37
NC_000002.10:g.215584420del	NCBI36
NG_007074.1:g.131979del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2322del MANE Select	ENSP00000272895.7:p.Ile775Ter
ENST00000272895.11:c.2322del	ENSP00000272895.7:p.Ile775Ter
ENST00000389661.4:c.1368del	ENSP00000374312.4:p.Ile457Ter
NM_015657.3:c.1368del	NP_056472.2:p.Ile457Ter
NM_173076.2:c.2322del	NP_775099.2:p.Ile775Ter
NR_103740.1:n.2566del
XM_011510951.1:c.2322del	XP_011509253.1:p.Ile775Ter
XM_011510952.1:c.2322del	XP_011509254.1:p.Ile775Ter
XM_011510951.2:c.2322del	XP_011509253.1:p.Ile775Ter
NM_173076.3:c.2322del MANE Select	NP_775099.2:p.Ile775Ter
NR_103740.2:n.2764del
NM_015657.4:c.1368del	NP_056472.2:p.Ile457Ter