Canonical Allele Identifier: CA252479
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859
dbSNP Id: rs387906284

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214945022del , CM000664.2:g.214945022del GRCh38
NC_000002.11:g.215809746del , CM000664.1:g.215809746del GRCh37
NC_000002.10:g.215517991del NCBI36
NG_007074.1:g.198407del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7323del MANE Select ENSP00000272895.7:p.Val2442SerfsTer22
ENST00000272895.11:c.7323del ENSP00000272895.7:p.Val2442SerfsTer22
ENST00000389661.4:c.6369del ENSP00000374312.4:p.Val2124SerfsTer22
NM_015657.3:c.6369del NP_056472.2:p.Val2124SerfsTer22
NM_173076.2:c.7323del NP_775099.2:p.Val2442SerfsTer22
NR_103740.1:n.7623del
NR_110292.1:n.322-2803del
XM_011510951.1:c.7332del XP_011509253.1:p.Val2445SerfsTer22
XM_011510951.2:c.7332del XP_011509253.1:p.Val2445SerfsTer22
NM_173076.3:c.7323del MANE Select NP_775099.2:p.Val2442SerfsTer22
NR_103740.2:n.7821del
NM_015657.4:c.6369del NP_056472.2:p.Val2124SerfsTer22