Canonical Allele Identifier: CA764554291

Gene: ABCA12

Linked Data

• dbSNP Id: rs1214992542
• MyVariant Identifiers: chr2:g.215876594_215876595insTC (hg19) ; chr2:g.215011870_215011871insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011871_215011872insCT , CM000664.2:g.215011871_215011872insCT	GRCh38
NC_000002.11:g.215876595_215876596insCT , CM000664.1:g.215876595_215876596insCT	GRCh37
NC_000002.10:g.215584840_215584841insCT	NCBI36
NG_007074.1:g.131557_131558insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+100_2121+101insGA MANE Select	ENSP00000272895.7:n.2121+100_2121+101insGA
ENST00000272895.11:c.2121+100_2121+101insGA	ENSP00000272895.7:n.2121+100_2121+101insGA
ENST00000389661.4:c.1167+100_1167+101insGA	ENSP00000374312.4:n.1167+100_1167+101insGA
NM_015657.3:c.1167+100_1167+101insGA	NP_056472.2:n.1167+100_1167+101insGA
NM_173076.2:c.2121+100_2121+101insGA	NP_775099.2:n.2121+100_2121+101insGA
NR_103740.1:n.2365+100_2365+101insGA
XM_011510951.1:c.2121+100_2121+101insGA	XP_011509253.1:n.2121+100_2121+101insGA
XM_011510952.1:c.2121+100_2121+101insGA	XP_011509254.1:n.2121+100_2121+101insGA
XM_011510951.2:c.2121+100_2121+101insGA	XP_011509253.1:n.2121+100_2121+101insGA
NM_173076.3:c.2121+100_2121+101insGA MANE Select	NP_775099.2:n.2121+100_2121+101insGA
NR_103740.2:n.2563+100_2563+101insGA
NM_015657.4:c.1167+100_1167+101insGA	NP_056472.2:n.1167+100_1167+101insGA