Canonical Allele Identifier: CA2662982510

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019869-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019870_215019871del , CM000664.2:g.215019870_215019871del	GRCh38
NC_000002.11:g.215884594_215884595del , CM000664.1:g.215884594_215884595del	GRCh37
NC_000002.10:g.215592839_215592840del	NCBI36
NG_007074.1:g.123557_123558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1288-75_1288-74del MANE Select	ENSP00000272895.7:n.1288-75_1288-74del
ENST00000272895.11:c.1288-75_1288-74del	ENSP00000272895.7:n.1288-75_1288-74del
ENST00000389661.4:c.334-75_334-74del	ENSP00000374312.4:n.334-75_334-74del
NM_015657.3:c.334-75_334-74del	NP_056472.2:n.334-75_334-74del
NM_173076.2:c.1288-75_1288-74del	NP_775099.2:n.1288-75_1288-74del
NR_103740.1:n.1532-75_1532-74del
XM_011510951.1:c.1288-75_1288-74del	XP_011509253.1:n.1288-75_1288-74del
XM_011510952.1:c.1288-75_1288-74del	XP_011509254.1:n.1288-75_1288-74del
XM_011510951.2:c.1288-75_1288-74del	XP_011509253.1:n.1288-75_1288-74del
NM_173076.3:c.1288-75_1288-74del MANE Select	NP_775099.2:n.1288-75_1288-74del
NR_103740.2:n.1730-75_1730-74del
NM_015657.4:c.334-75_334-74del	NP_056472.2:n.334-75_334-74del