Canonical Allele Identifier: CA764553685

Gene: ABCA12

Linked Data

• dbSNP Id: rs1196777432
• gnomAD v3: 2-215011361-T-TA
• gnomAD v4: 2-215011361-T-TA
• MyVariant Identifiers: chr2:g.215876085_215876086insA (hg19) ; chr2:g.215011361_215011362insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011367dup , CM000664.2:g.215011367dup	GRCh38
NC_000002.11:g.215876091dup , CM000664.1:g.215876091dup	GRCh37
NC_000002.10:g.215584336dup	NCBI36
NG_007074.1:g.132066dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+77dup MANE Select	ENSP00000272895.7:n.2332+77dup
ENST00000272895.11:c.2332+77dup	ENSP00000272895.7:n.2332+77dup
ENST00000389661.4:c.1378+77dup	ENSP00000374312.4:n.1378+77dup
NM_015657.3:c.1378+77dup	NP_056472.2:n.1378+77dup
NM_173076.2:c.2332+77dup	NP_775099.2:n.2332+77dup
NR_103740.1:n.2576+77dup
XM_011510951.1:c.2332+77dup	XP_011509253.1:n.2332+77dup
XM_011510952.1:c.2332+77dup	XP_011509254.1:n.2332+77dup
XM_011510951.2:c.2332+77dup	XP_011509253.1:n.2332+77dup
NM_173076.3:c.2332+77dup MANE Select	NP_775099.2:n.2332+77dup
NR_103740.2:n.2774+77dup
NM_015657.4:c.1378+77dup	NP_056472.2:n.1378+77dup