Canonical Allele Identifier: CA1327177472

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019498_215019499delinsGA , CM000664.2:g.215019498_215019499delinsGA	GRCh38
NC_000002.11:g.215884222_215884223delinsGA , CM000664.1:g.215884222_215884223delinsGA	GRCh37
NC_000002.10:g.215592467_215592468delinsGA	NCBI36
NG_007074.1:g.123929_123930delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+41_1544+42delinsTC MANE Select	ENSP00000272895.7:n.1544+41_1544+42delinsTC
ENST00000272895.11:c.1544+41_1544+42delinsTC	ENSP00000272895.7:n.1544+41_1544+42delinsTC
ENST00000389661.4:c.590+41_590+42delinsTC	ENSP00000374312.4:n.590+41_590+42delinsTC
NM_015657.3:c.590+41_590+42delinsTC	NP_056472.2:n.590+41_590+42delinsTC
NM_173076.2:c.1544+41_1544+42delinsTC	NP_775099.2:n.1544+41_1544+42delinsTC
NR_103740.1:n.1788+41_1788+42delinsTC
XM_011510951.1:c.1544+41_1544+42delinsTC	XP_011509253.1:n.1544+41_1544+42delinsTC
XM_011510952.1:c.1544+41_1544+42delinsTC	XP_011509254.1:n.1544+41_1544+42delinsTC
XM_011510951.2:c.1544+41_1544+42delinsTC	XP_011509253.1:n.1544+41_1544+42delinsTC
NM_173076.3:c.1544+41_1544+42delinsTC MANE Select	NP_775099.2:n.1544+41_1544+42delinsTC
NR_103740.2:n.1986+41_1986+42delinsTC
NM_015657.4:c.590+41_590+42delinsTC	NP_056472.2:n.590+41_590+42delinsTC