Canonical Allele Identifier: CA1754784690
Gene: SHH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812180_155812185delinsCGCGCG , CM000669.2:g.155812180_155812185delinsCGCGCG GRCh38
NC_000007.13:g.155604874_155604879delinsCGCGCG , CM000669.1:g.155604874_155604879delinsCGCGCG GRCh37
NC_000007.12:g.155297635_155297640delinsCGCGCG NCBI36
NG_007504.2:g.5089_5094delinsCGCGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-63_-58delinsCGCGCG MANE Select ENSP00000297261.2:n.-63_-58delinsCGCGCG
ENST00000297261.6:c.-63_-58delinsCGCGCG ENSP00000297261.2:n.-63_-58delinsCGCGCG
NM_000193.2:c.-63_-58delinsCGCGCG NP_000184.1:n.-63_-58delinsCGCGCG
NM_000193.3:c.-63_-58delinsCGCGCG NP_000184.1:n.-63_-58delinsCGCGCG
NM_000193.4:c.-63_-58delinsCGCGCG MANE Select NP_000184.1:n.-63_-58delinsCGCGCG