Canonical Allele Identifier: CA2685803544
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812186_155812187insA , CM000669.2:g.155812186_155812187insA GRCh38
NC_000007.13:g.155604880_155604881insA , CM000669.1:g.155604880_155604881insA GRCh37
NC_000007.12:g.155297641_155297642insA NCBI36
NG_007504.2:g.5087_5088insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-65_-64insT MANE Select ENSP00000297261.2:n.-65_-64insT
ENST00000297261.6:c.-65_-64insT ENSP00000297261.2:n.-65_-64insT
NM_000193.2:c.-65_-64insT NP_000184.1:n.-65_-64insT
NM_000193.3:c.-65_-64insT NP_000184.1:n.-65_-64insT
NM_000193.4:c.-65_-64insT MANE Select NP_000184.1:n.-65_-64insT