Canonical Allele Identifier: CA1327165297

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990648_214990649delinsCA , CM000664.2:g.214990648_214990649delinsCA	GRCh38
NC_000002.11:g.215855372_215855373delinsCA , CM000664.1:g.215855372_215855373delinsCA	GRCh37
NC_000002.10:g.215563617_215563618delinsCA	NCBI36
NG_007074.1:g.152779_152780delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3624+53_3624+54delinsTG MANE Select	ENSP00000272895.7:n.3624+53_3624+54delinsTG
ENST00000272895.11:c.3624+53_3624+54delinsTG	ENSP00000272895.7:n.3624+53_3624+54delinsTG
ENST00000389661.4:c.2670+53_2670+54delinsTG	ENSP00000374312.4:n.2670+53_2670+54delinsTG
NM_015657.3:c.2670+53_2670+54delinsTG	NP_056472.2:n.2670+53_2670+54delinsTG
NM_173076.2:c.3624+53_3624+54delinsTG	NP_775099.2:n.3624+53_3624+54delinsTG
NR_103740.1:n.3924+53_3924+54delinsTG
XM_011510951.1:c.3624+53_3624+54delinsTG	XP_011509253.1:n.3624+53_3624+54delinsTG
XM_011510952.1:c.3624+53_3624+54delinsTG	XP_011509254.1:n.3624+53_3624+54delinsTG
XM_011510951.2:c.3624+53_3624+54delinsTG	XP_011509253.1:n.3624+53_3624+54delinsTG
NM_173076.3:c.3624+53_3624+54delinsTG MANE Select	NP_775099.2:n.3624+53_3624+54delinsTG
NR_103740.2:n.4122+53_4122+54delinsTG
NM_015657.4:c.2670+53_2670+54delinsTG	NP_056472.2:n.2670+53_2670+54delinsTG