Canonical Allele Identifier: CA1327177482

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019518_215019519delinsAG , CM000664.2:g.215019518_215019519delinsAG	GRCh38
NC_000002.11:g.215884242_215884243delinsAG , CM000664.1:g.215884242_215884243delinsAG	GRCh37
NC_000002.10:g.215592487_215592488delinsAG	NCBI36
NG_007074.1:g.123909_123910delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+21_1544+22delinsCT MANE Select	ENSP00000272895.7:n.1544+21_1544+22delinsCT
ENST00000272895.11:c.1544+21_1544+22delinsCT	ENSP00000272895.7:n.1544+21_1544+22delinsCT
ENST00000389661.4:c.590+21_590+22delinsCT	ENSP00000374312.4:n.590+21_590+22delinsCT
NM_015657.3:c.590+21_590+22delinsCT	NP_056472.2:n.590+21_590+22delinsCT
NM_173076.2:c.1544+21_1544+22delinsCT	NP_775099.2:n.1544+21_1544+22delinsCT
NR_103740.1:n.1788+21_1788+22delinsCT
XM_011510951.1:c.1544+21_1544+22delinsCT	XP_011509253.1:n.1544+21_1544+22delinsCT
XM_011510952.1:c.1544+21_1544+22delinsCT	XP_011509254.1:n.1544+21_1544+22delinsCT
XM_011510951.2:c.1544+21_1544+22delinsCT	XP_011509253.1:n.1544+21_1544+22delinsCT
NM_173076.3:c.1544+21_1544+22delinsCT MANE Select	NP_775099.2:n.1544+21_1544+22delinsCT
NR_103740.2:n.1986+21_1986+22delinsCT
NM_015657.4:c.590+21_590+22delinsCT	NP_056472.2:n.590+21_590+22delinsCT