Canonical Allele Identifier: CA1327165457
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214991066_214991067delinsCT , CM000664.2:g.214991066_214991067delinsCT GRCh38
NC_000002.11:g.215855790_215855791delinsCT , CM000664.1:g.215855790_215855791delinsCT GRCh37
NC_000002.10:g.215564035_215564036delinsCT NCBI36
NG_007074.1:g.152361_152362delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3295-36_3295-35delinsAG MANE Select ENSP00000272895.7:n.3295-36_3295-35delinsAG
ENST00000272895.11:c.3295-36_3295-35delinsAG ENSP00000272895.7:n.3295-36_3295-35delinsAG
ENST00000389661.4:c.2341-36_2341-35delinsAG ENSP00000374312.4:n.2341-36_2341-35delinsAG
NM_015657.3:c.2341-36_2341-35delinsAG NP_056472.2:n.2341-36_2341-35delinsAG
NM_173076.2:c.3295-36_3295-35delinsAG NP_775099.2:n.3295-36_3295-35delinsAG
NR_103740.1:n.3595-36_3595-35delinsAG
XM_011510951.1:c.3295-36_3295-35delinsAG XP_011509253.1:n.3295-36_3295-35delinsAG
XM_011510952.1:c.3295-36_3295-35delinsAG XP_011509254.1:n.3295-36_3295-35delinsAG
XM_011510951.2:c.3295-36_3295-35delinsAG XP_011509253.1:n.3295-36_3295-35delinsAG
NM_173076.3:c.3295-36_3295-35delinsAG MANE Select NP_775099.2:n.3295-36_3295-35delinsAG
NR_103740.2:n.3793-36_3793-35delinsAG
NM_015657.4:c.2341-36_2341-35delinsAG NP_056472.2:n.2341-36_2341-35delinsAG