Canonical Allele Identifier: CA2697550435

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2768293
• ClinVar RCV Id: RCV003576301

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019557_215019560del , CM000664.2:g.215019557_215019560del	GRCh38
NC_000002.11:g.215884281_215884284del , CM000664.1:g.215884281_215884284del	GRCh37
NC_000002.10:g.215592526_215592529del	NCBI36
NG_007074.1:g.123872_123875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1528_1531del MANE Select	ENSP00000272895.7:p.Asn510Ter
ENST00000272895.11:c.1528_1531del	ENSP00000272895.7:p.Asn510Ter
ENST00000389661.4:c.574_577del	ENSP00000374312.4:p.Asn192Ter
NM_015657.3:c.574_577del	NP_056472.2:p.Asn192Ter
NM_173076.2:c.1528_1531del	NP_775099.2:p.Asn510Ter
NR_103740.1:n.1772_1775del
XM_011510951.1:c.1528_1531del	XP_011509253.1:p.Asn510Ter
XM_011510952.1:c.1528_1531del	XP_011509254.1:p.Asn510Ter
XM_011510951.2:c.1528_1531del	XP_011509253.1:p.Asn510Ter
NM_173076.3:c.1528_1531del MANE Select	NP_775099.2:p.Asn510Ter
NR_103740.2:n.1970_1973del
NM_015657.4:c.574_577del	NP_056472.2:p.Asn192Ter