Canonical Allele Identifier: CA2662980653

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011866-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011867_215011868insGT , CM000664.2:g.215011867_215011868insGT	GRCh38
NC_000002.11:g.215876591_215876592insGT , CM000664.1:g.215876591_215876592insGT	GRCh37
NC_000002.10:g.215584836_215584837insGT	NCBI36
NG_007074.1:g.131561_131562insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+104_2121+105insCA MANE Select	ENSP00000272895.7:n.2121+104_2121+105insCA
ENST00000272895.11:c.2121+104_2121+105insCA	ENSP00000272895.7:n.2121+104_2121+105insCA
ENST00000389661.4:c.1167+104_1167+105insCA	ENSP00000374312.4:n.1167+104_1167+105insCA
NM_015657.3:c.1167+104_1167+105insCA	NP_056472.2:n.1167+104_1167+105insCA
NM_173076.2:c.2121+104_2121+105insCA	NP_775099.2:n.2121+104_2121+105insCA
NR_103740.1:n.2365+104_2365+105insCA
XM_011510951.1:c.2121+104_2121+105insCA	XP_011509253.1:n.2121+104_2121+105insCA
XM_011510952.1:c.2121+104_2121+105insCA	XP_011509254.1:n.2121+104_2121+105insCA
XM_011510951.2:c.2121+104_2121+105insCA	XP_011509253.1:n.2121+104_2121+105insCA
NM_173076.3:c.2121+104_2121+105insCA MANE Select	NP_775099.2:n.2121+104_2121+105insCA
NR_103740.2:n.2563+104_2563+105insCA
NM_015657.4:c.1167+104_1167+105insCA	NP_056472.2:n.1167+104_1167+105insCA