Canonical Allele Identifier: CA1327177458

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019464_215019467delinsAAAG , CM000664.2:g.215019464_215019467delinsAAAG	GRCh38
NC_000002.11:g.215884188_215884191delinsAAAG , CM000664.1:g.215884188_215884191delinsAAAG	GRCh37
NC_000002.10:g.215592433_215592436delinsAAAG	NCBI36
NG_007074.1:g.123961_123964delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1545-19_1545-16delinsCTTT MANE Select	ENSP00000272895.7:n.1545-19_1545-16delinsCTTT
ENST00000272895.11:c.1545-19_1545-16delinsCTTT	ENSP00000272895.7:n.1545-19_1545-16delinsCTTT
ENST00000389661.4:c.591-19_591-16delinsCTTT	ENSP00000374312.4:n.591-19_591-16delinsCTTT
NM_015657.3:c.591-19_591-16delinsCTTT	NP_056472.2:n.591-19_591-16delinsCTTT
NM_173076.2:c.1545-19_1545-16delinsCTTT	NP_775099.2:n.1545-19_1545-16delinsCTTT
NR_103740.1:n.1789-19_1789-16delinsCTTT
XM_011510951.1:c.1545-19_1545-16delinsCTTT	XP_011509253.1:n.1545-19_1545-16delinsCTTT
XM_011510952.1:c.1545-19_1545-16delinsCTTT	XP_011509254.1:n.1545-19_1545-16delinsCTTT
XM_011510951.2:c.1545-19_1545-16delinsCTTT	XP_011509253.1:n.1545-19_1545-16delinsCTTT
NM_173076.3:c.1545-19_1545-16delinsCTTT MANE Select	NP_775099.2:n.1545-19_1545-16delinsCTTT
NR_103740.2:n.1987-19_1987-16delinsCTTT
NM_015657.4:c.591-19_591-16delinsCTTT	NP_056472.2:n.591-19_591-16delinsCTTT