Canonical Allele Identifier: CA16617466
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 420096
ClinVar RCV Id: RCV000485216
dbSNP Id: rs1064794286
gnomAD v3: 2-215011497-C-CA
gnomAD v4: 2-215011497-C-CA
MyVariant Identifiers: chr2:g.215876222dupA (hg19) chr2:g.215876221_215876222insA (hg19) chr2:g.215011498dupA (hg38) chr2:g.215011497_215011498insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011503dup , CM000664.2:g.215011503dup GRCh38
NC_000002.11:g.215876227dup , CM000664.1:g.215876227dup GRCh37
NC_000002.10:g.215584472dup NCBI36
NG_007074.1:g.131930dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2273dup MANE Select ENSP00000272895.7:p.Leu758PhefsTer4
ENST00000272895.11:c.2273dup ENSP00000272895.7:p.Leu758PhefsTer4
ENST00000389661.4:c.1319dup ENSP00000374312.4:p.Leu440PhefsTer4
NM_015657.3:c.1319dup NP_056472.2:p.Leu440PhefsTer4
NM_173076.2:c.2273dup NP_775099.2:p.Leu758PhefsTer4
NR_103740.1:n.2517dup
XM_011510951.1:c.2273dup XP_011509253.1:p.Leu758PhefsTer4
XM_011510952.1:c.2273dup XP_011509254.1:p.Leu758PhefsTer4
XM_011510951.2:c.2273dup XP_011509253.1:p.Leu758PhefsTer4
NM_173076.3:c.2273dup MANE Select NP_775099.2:p.Leu758PhefsTer4
NR_103740.2:n.2715dup
NM_015657.4:c.1319dup NP_056472.2:p.Leu440PhefsTer4
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