Canonical Allele Identifier: CA764553691

Gene: ABCA12

Linked Data

• dbSNP Id: rs1204799910
• gnomAD v3: 2-215011370-AAGAC-A
• gnomAD v4: 2-215011370-AAGAC-A
• MyVariant Identifiers: chr2:g.215876095_215876098del (hg19) ; chr2:g.215011371_215011374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011374_215011377del , CM000664.2:g.215011374_215011377del	GRCh38
NC_000002.11:g.215876098_215876101del , CM000664.1:g.215876098_215876101del	GRCh37
NC_000002.10:g.215584343_215584346del	NCBI36
NG_007074.1:g.132054_132057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.2332+65_2332+68del MANE Select	ENSP00000272895.7:n.2332+65_2332+68del
ENST00000272895.11:c.2332+65_2332+68del	ENSP00000272895.7:n.2332+65_2332+68del
ENST00000389661.4:c.1378+65_1378+68del	ENSP00000374312.4:n.1378+65_1378+68del
NM_015657.3:c.1378+65_1378+68del	NP_056472.2:n.1378+65_1378+68del
NM_173076.2:c.2332+65_2332+68del	NP_775099.2:n.2332+65_2332+68del
NR_103740.1:n.2576+65_2576+68del
XM_011510951.1:c.2332+65_2332+68del	XP_011509253.1:n.2332+65_2332+68del
XM_011510952.1:c.2332+65_2332+68del	XP_011509254.1:n.2332+65_2332+68del
XM_011510951.2:c.2332+65_2332+68del	XP_011509253.1:n.2332+65_2332+68del
NM_173076.3:c.2332+65_2332+68del MANE Select	NP_775099.2:n.2332+65_2332+68del
NR_103740.2:n.2774+65_2774+68del
NM_015657.4:c.1378+65_1378+68del	NP_056472.2:n.1378+65_1378+68del