Canonical Allele Identifier: CA2662978950

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214991119-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214991120_214991121insCA , CM000664.2:g.214991120_214991121insCA	GRCh38
NC_000002.11:g.215855844_215855845insCA , CM000664.1:g.215855844_215855845insCA	GRCh37
NC_000002.10:g.215564089_215564090insCA	NCBI36
NG_007074.1:g.152308_152309insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3295-89_3295-88insGT MANE Select	ENSP00000272895.7:n.3295-89_3295-88insGT
ENST00000272895.11:c.3295-89_3295-88insGT	ENSP00000272895.7:n.3295-89_3295-88insGT
ENST00000389661.4:c.2341-89_2341-88insGT	ENSP00000374312.4:n.2341-89_2341-88insGT
NM_015657.3:c.2341-89_2341-88insGT	NP_056472.2:n.2341-89_2341-88insGT
NM_173076.2:c.3295-89_3295-88insGT	NP_775099.2:n.3295-89_3295-88insGT
NR_103740.1:n.3595-89_3595-88insGT
XM_011510951.1:c.3295-89_3295-88insGT	XP_011509253.1:n.3295-89_3295-88insGT
XM_011510952.1:c.3295-89_3295-88insGT	XP_011509254.1:n.3295-89_3295-88insGT
XM_011510951.2:c.3295-89_3295-88insGT	XP_011509253.1:n.3295-89_3295-88insGT
NM_173076.3:c.3295-89_3295-88insGT MANE Select	NP_775099.2:n.3295-89_3295-88insGT
NR_103740.2:n.3793-89_3793-88insGT
NM_015657.4:c.2341-89_2341-88insGT	NP_056472.2:n.2341-89_2341-88insGT