Canonical Allele Identifier: CA116733
Gene: ENAM HGNC NCBI

Linked Data

ClinVar Variation Id: 4238
dbSNP Id: rs587776588

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642685_70642686insAG , CM000666.2:g.70642685_70642686insAG GRCh38
NC_000004.11:g.71508402_71508403insAG , CM000666.1:g.71508402_71508403insAG GRCh37
NC_000004.10:g.71727266_71727267insAG NCBI36
NG_013024.1:g.18942_18943insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.1259_1260insAG MANE Select ENSP00000379383.4:p.Pro422ValfsTer27
ENST00000396073.3:c.1259_1260insAG ENSP00000379383.3:p.Pro422ValfsTer27
ENST00000472903.5:n.99+4842_99+4843insAG
NM_031889.2:c.1259_1260insAG NP_114095.2:p.Pro422ValfsTer27
XM_006714056.2:c.1259_1260insAG XP_006714119.1:p.Pro422ValfsTer27
XM_006714056.4:c.1259_1260insAG XP_006714119.1:p.Pro422ValfsTer27
NM_001368133.1:c.605_606insAG NP_001355062.1:p.Pro204ValfsTer27
NM_031889.3:c.1259_1260insAG MANE Select NP_114095.2:p.Pro422ValfsTer27