Canonical Allele Identifier: CA1327177457
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019462_215019463delinsGA , CM000664.2:g.215019462_215019463delinsGA GRCh38
NC_000002.11:g.215884186_215884187delinsGA , CM000664.1:g.215884186_215884187delinsGA GRCh37
NC_000002.10:g.215592431_215592432delinsGA NCBI36
NG_007074.1:g.123965_123966delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1545-15_1545-14delinsTC MANE Select ENSP00000272895.7:n.1545-15_1545-14delinsTC
ENST00000272895.11:c.1545-15_1545-14delinsTC ENSP00000272895.7:n.1545-15_1545-14delinsTC
ENST00000389661.4:c.591-15_591-14delinsTC ENSP00000374312.4:n.591-15_591-14delinsTC
NM_015657.3:c.591-15_591-14delinsTC NP_056472.2:n.591-15_591-14delinsTC
NM_173076.2:c.1545-15_1545-14delinsTC NP_775099.2:n.1545-15_1545-14delinsTC
NR_103740.1:n.1789-15_1789-14delinsTC
XM_011510951.1:c.1545-15_1545-14delinsTC XP_011509253.1:n.1545-15_1545-14delinsTC
XM_011510952.1:c.1545-15_1545-14delinsTC XP_011509254.1:n.1545-15_1545-14delinsTC
XM_011510951.2:c.1545-15_1545-14delinsTC XP_011509253.1:n.1545-15_1545-14delinsTC
NM_173076.3:c.1545-15_1545-14delinsTC MANE Select NP_775099.2:n.1545-15_1545-14delinsTC
NR_103740.2:n.1987-15_1987-14delinsTC
NM_015657.4:c.591-15_591-14delinsTC NP_056472.2:n.591-15_591-14delinsTC