Canonical Allele Identifier: CA764541824

Gene: ABCA12

Linked Data

• dbSNP Id: rs1282233956
• gnomAD v3: 2-214991095-CT-C
• gnomAD v4: 2-214991095-CT-C
• MyVariant Identifiers: chr2:g.215855820del (hg19) ; chr2:g.214991096del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214991096del , CM000664.2:g.214991096del	GRCh38
NC_000002.11:g.215855820del , CM000664.1:g.215855820del	GRCh37
NC_000002.10:g.215564065del	NCBI36
NG_007074.1:g.152332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3295-65del MANE Select	ENSP00000272895.7:n.3295-65del
ENST00000272895.11:c.3295-65del	ENSP00000272895.7:n.3295-65del
ENST00000389661.4:c.2341-65del	ENSP00000374312.4:n.2341-65del
NM_015657.3:c.2341-65del	NP_056472.2:n.2341-65del
NM_173076.2:c.3295-65del	NP_775099.2:n.3295-65del
NR_103740.1:n.3595-65del
XM_011510951.1:c.3295-65del	XP_011509253.1:n.3295-65del
XM_011510952.1:c.3295-65del	XP_011509254.1:n.3295-65del
XM_011510951.2:c.3295-65del	XP_011509253.1:n.3295-65del
NM_173076.3:c.3295-65del MANE Select	NP_775099.2:n.3295-65del
NR_103740.2:n.3793-65del
NM_015657.4:c.2341-65del	NP_056472.2:n.2341-65del