Canonical Allele Identifier: CA2662978888

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214990678-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990679dup , CM000664.2:g.214990679dup	GRCh38
NC_000002.11:g.215855403dup , CM000664.1:g.215855403dup	GRCh37
NC_000002.10:g.215563648dup	NCBI36
NG_007074.1:g.152749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3624+23dup MANE Select	ENSP00000272895.7:n.3624+23dup
ENST00000272895.11:c.3624+23dup	ENSP00000272895.7:n.3624+23dup
ENST00000389661.4:c.2670+23dup	ENSP00000374312.4:n.2670+23dup
NM_015657.3:c.2670+23dup	NP_056472.2:n.2670+23dup
NM_173076.2:c.3624+23dup	NP_775099.2:n.3624+23dup
NR_103740.1:n.3924+23dup
XM_011510951.1:c.3624+23dup	XP_011509253.1:n.3624+23dup
XM_011510952.1:c.3624+23dup	XP_011509254.1:n.3624+23dup
XM_011510951.2:c.3624+23dup	XP_011509253.1:n.3624+23dup
NM_173076.3:c.3624+23dup MANE Select	NP_775099.2:n.3624+23dup
NR_103740.2:n.4122+23dup
NM_015657.4:c.2670+23dup	NP_056472.2:n.2670+23dup