Canonical Allele Identifier: CA2754210089

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214986489_214986490insTT , CM000664.2:g.214986489_214986490insTT	GRCh38
NC_000002.11:g.215851213_215851214insTT , CM000664.1:g.215851213_215851214insTT	GRCh37
NC_000002.10:g.215559458_215559459insTT	NCBI36
NG_007074.1:g.156939_156940insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4163+53_4163+54insAA MANE Select	ENSP00000272895.7:n.4163+53_4163+54insAA
ENST00000272895.11:c.4163+53_4163+54insAA	ENSP00000272895.7:n.4163+53_4163+54insAA
ENST00000389661.4:c.3209+53_3209+54insAA	ENSP00000374312.4:n.3209+53_3209+54insAA
NM_015657.3:c.3209+53_3209+54insAA	NP_056472.2:n.3209+53_3209+54insAA
NM_173076.2:c.4163+53_4163+54insAA	NP_775099.2:n.4163+53_4163+54insAA
NR_103740.1:n.4463+53_4463+54insAA
XM_011510951.1:c.4172+53_4172+54insAA	XP_011509253.1:n.4172+53_4172+54insAA
XM_011510952.1:c.4172+53_4172+54insAA	XP_011509254.1:n.4172+53_4172+54insAA
XM_011510951.2:c.4172+53_4172+54insAA	XP_011509253.1:n.4172+53_4172+54insAA
NM_173076.3:c.4163+53_4163+54insAA MANE Select	NP_775099.2:n.4163+53_4163+54insAA
NR_103740.2:n.4661+53_4661+54insAA
NM_015657.4:c.3209+53_3209+54insAA	NP_056472.2:n.3209+53_3209+54insAA