Canonical Allele Identifier: CA2662980500

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011765-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011769del , CM000664.2:g.215011769del	GRCh38
NC_000002.11:g.215876493del , CM000664.1:g.215876493del	GRCh37
NC_000002.10:g.215584738del	NCBI36
NG_007074.1:g.131662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2122-117del MANE Select	ENSP00000272895.7:n.2122-117del
ENST00000272895.11:c.2122-117del	ENSP00000272895.7:n.2122-117del
ENST00000389661.4:c.1168-117del	ENSP00000374312.4:n.1168-117del
NM_015657.3:c.1168-117del	NP_056472.2:n.1168-117del
NM_173076.2:c.2122-117del	NP_775099.2:n.2122-117del
NR_103740.1:n.2366-117del
XM_011510951.1:c.2122-117del	XP_011509253.1:n.2122-117del
XM_011510952.1:c.2122-117del	XP_011509254.1:n.2122-117del
XM_011510951.2:c.2122-117del	XP_011509253.1:n.2122-117del
NM_173076.3:c.2122-117del MANE Select	NP_775099.2:n.2122-117del
NR_103740.2:n.2564-117del
NM_015657.4:c.1168-117del	NP_056472.2:n.1168-117del