Canonical Allele Identifier: CA1327174117

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011497_215011498delinsCA , CM000664.2:g.215011497_215011498delinsCA	GRCh38
NC_000002.11:g.215876221_215876222delinsCA , CM000664.1:g.215876221_215876222delinsCA	GRCh37
NC_000002.10:g.215584466_215584467delinsCA	NCBI36
NG_007074.1:g.131930_131931delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2273_2274delinsTG MANE Select	ENSP00000272895.7:p.Leu758=
ENST00000272895.11:c.2273_2274delinsTG	ENSP00000272895.7:p.Leu758=
ENST00000389661.4:c.1319_1320delinsTG	ENSP00000374312.4:p.Leu440=
NM_015657.3:c.1319_1320delinsTG	NP_056472.2:p.Leu440=
NM_173076.2:c.2273_2274delinsTG	NP_775099.2:p.Leu758=
NR_103740.1:n.2517_2518delinsTG
XM_011510951.1:c.2273_2274delinsTG	XP_011509253.1:p.Leu758=
XM_011510952.1:c.2273_2274delinsTG	XP_011509254.1:p.Leu758=
XM_011510951.2:c.2273_2274delinsTG	XP_011509253.1:p.Leu758=
NM_173076.3:c.2273_2274delinsTG MANE Select	NP_775099.2:p.Leu758=
NR_103740.2:n.2715_2716delinsTG
NM_015657.4:c.1319_1320delinsTG	NP_056472.2:p.Leu440=