Canonical Allele Identifier: CA2701481153
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs2106002468

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011874_215011875insC , CM000664.2:g.215011874_215011875insC GRCh38
NC_000002.11:g.215876598_215876599insC , CM000664.1:g.215876598_215876599insC GRCh37
NC_000002.10:g.215584843_215584844insC NCBI36
NG_007074.1:g.131553_131554insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2121+96_2121+97insG MANE Select ENSP00000272895.7:n.2121+96_2121+97insG
ENST00000272895.11:c.2121+96_2121+97insG ENSP00000272895.7:n.2121+96_2121+97insG
ENST00000389661.4:c.1167+96_1167+97insG ENSP00000374312.4:n.1167+96_1167+97insG
NM_015657.3:c.1167+96_1167+97insG NP_056472.2:n.1167+96_1167+97insG
NM_173076.2:c.2121+96_2121+97insG NP_775099.2:n.2121+96_2121+97insG
NR_103740.1:n.2365+96_2365+97insG
XM_011510951.1:c.2121+96_2121+97insG XP_011509253.1:n.2121+96_2121+97insG
XM_011510952.1:c.2121+96_2121+97insG XP_011509254.1:n.2121+96_2121+97insG
XM_011510951.2:c.2121+96_2121+97insG XP_011509253.1:n.2121+96_2121+97insG
NM_173076.3:c.2121+96_2121+97insG MANE Select NP_775099.2:n.2121+96_2121+97insG
NR_103740.2:n.2563+96_2563+97insG
NM_015657.4:c.1167+96_1167+97insG NP_056472.2:n.1167+96_1167+97insG