Canonical Allele Identifier: CA916772352
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1574981775

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011872_215011873insG , CM000664.2:g.215011872_215011873insG GRCh38
NC_000002.11:g.215876596_215876597insG , CM000664.1:g.215876596_215876597insG GRCh37
NC_000002.10:g.215584841_215584842insG NCBI36
NG_007074.1:g.131555_131556insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2121+98_2121+99insC MANE Select ENSP00000272895.7:n.2121+98_2121+99insC
ENST00000272895.11:c.2121+98_2121+99insC ENSP00000272895.7:n.2121+98_2121+99insC
ENST00000389661.4:c.1167+98_1167+99insC ENSP00000374312.4:n.1167+98_1167+99insC
NM_015657.3:c.1167+98_1167+99insC NP_056472.2:n.1167+98_1167+99insC
NM_173076.2:c.2121+98_2121+99insC NP_775099.2:n.2121+98_2121+99insC
NR_103740.1:n.2365+98_2365+99insC
XM_011510951.1:c.2121+98_2121+99insC XP_011509253.1:n.2121+98_2121+99insC
XM_011510952.1:c.2121+98_2121+99insC XP_011509254.1:n.2121+98_2121+99insC
XM_011510951.2:c.2121+98_2121+99insC XP_011509253.1:n.2121+98_2121+99insC
NM_173076.3:c.2121+98_2121+99insC MANE Select NP_775099.2:n.2121+98_2121+99insC
NR_103740.2:n.2563+98_2563+99insC
NM_015657.4:c.1167+98_1167+99insC NP_056472.2:n.1167+98_1167+99insC