Canonical Allele Identifier: CA2662982496

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019854-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019855del , CM000664.2:g.215019855del	GRCh38
NC_000002.11:g.215884579del , CM000664.1:g.215884579del	GRCh37
NC_000002.10:g.215592824del	NCBI36
NG_007074.1:g.123573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1288-59del MANE Select	ENSP00000272895.7:n.1288-59del
ENST00000272895.11:c.1288-59del	ENSP00000272895.7:n.1288-59del
ENST00000389661.4:c.334-59del	ENSP00000374312.4:n.334-59del
NM_015657.3:c.334-59del	NP_056472.2:n.334-59del
NM_173076.2:c.1288-59del	NP_775099.2:n.1288-59del
NR_103740.1:n.1532-59del
XM_011510951.1:c.1288-59del	XP_011509253.1:n.1288-59del
XM_011510952.1:c.1288-59del	XP_011509254.1:n.1288-59del
XM_011510951.2:c.1288-59del	XP_011509253.1:n.1288-59del
NM_173076.3:c.1288-59del MANE Select	NP_775099.2:n.1288-59del
NR_103740.2:n.1730-59del
NM_015657.4:c.334-59del	NP_056472.2:n.334-59del