Canonical Allele Identifier: CA764596273

Gene: ABCA12

Linked Data

• dbSNP Id: rs1401156511
• gnomAD v3: 2-214978726-G-GA
• gnomAD v4: 2-214978726-G-GA
• MyVariant Identifiers: chr2:g.215843450_215843451insA (hg19) ; chr2:g.214978726_214978727insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978731dup , CM000664.2:g.214978731dup	GRCh38
NC_000002.11:g.215843455dup , CM000664.1:g.215843455dup	GRCh37
NC_000002.10:g.215551700dup	NCBI36
NG_007074.1:g.164701dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4977+77dup MANE Select	ENSP00000272895.7:n.4977+77dup
ENST00000272895.11:c.4977+77dup	ENSP00000272895.7:n.4977+77dup
ENST00000389661.4:c.4023+77dup	ENSP00000374312.4:n.4023+77dup
NM_015657.3:c.4023+77dup	NP_056472.2:n.4023+77dup
NM_173076.2:c.4977+77dup	NP_775099.2:n.4977+77dup
NR_103740.1:n.5277+77dup
XM_011510951.1:c.4986+77dup	XP_011509253.1:n.4986+77dup
XM_011510952.1:c.4986+77dup	XP_011509254.1:n.4986+77dup
XM_011510951.2:c.4986+77dup	XP_011509253.1:n.4986+77dup
NM_173076.3:c.4977+77dup MANE Select	NP_775099.2:n.4977+77dup
NR_103740.2:n.5475+77dup
NM_015657.4:c.4023+77dup	NP_056472.2:n.4023+77dup