Canonical Allele Identifier: CA2685803627
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812225del , CM000669.2:g.155812225del GRCh38
NC_000007.13:g.155604919del , CM000669.1:g.155604919del GRCh37
NC_000007.12:g.155297680del NCBI36
NG_007504.2:g.5050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-102del MANE Select ENSP00000297261.2:n.-102del
ENST00000297261.6:c.-102del ENSP00000297261.2:n.-102del
NM_000193.2:c.-102del NP_000184.1:n.-102del
NM_000193.3:c.-102del NP_000184.1:n.-102del
NM_000193.4:c.-102del MANE Select NP_000184.1:n.-102del