Canonical Allele Identifier: CA2662978053

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214978694-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978696del , CM000664.2:g.214978696del	GRCh38
NC_000002.11:g.215843420del , CM000664.1:g.215843420del	GRCh37
NC_000002.10:g.215551665del	NCBI36
NG_007074.1:g.164733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4977+109del MANE Select	ENSP00000272895.7:n.4977+109del
ENST00000272895.11:c.4977+109del	ENSP00000272895.7:n.4977+109del
ENST00000389661.4:c.4023+109del	ENSP00000374312.4:n.4023+109del
NM_015657.3:c.4023+109del	NP_056472.2:n.4023+109del
NM_173076.2:c.4977+109del	NP_775099.2:n.4977+109del
NR_103740.1:n.5277+109del
XM_011510951.1:c.4986+109del	XP_011509253.1:n.4986+109del
XM_011510952.1:c.4986+109del	XP_011509254.1:n.4986+109del
XM_011510951.2:c.4986+109del	XP_011509253.1:n.4986+109del
NM_173076.3:c.4977+109del MANE Select	NP_775099.2:n.4977+109del
NR_103740.2:n.5475+109del
NM_015657.4:c.4023+109del	NP_056472.2:n.4023+109del