Canonical Allele Identifier: CA2695208761
Gene: SHH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812032del , CM000669.2:g.155812032del GRCh38
NC_000007.13:g.155604726del , CM000669.1:g.155604726del GRCh37
NC_000007.12:g.155297487del NCBI36
NG_007504.2:g.5244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.93del MANE Select ENSP00000297261.2:p.Lys32ArgfsTer8
ENST00000297261.6:c.93del ENSP00000297261.2:p.Lys32ArgfsTer8
NM_000193.2:c.93del NP_000184.1:p.Lys32ArgfsTer8
NM_000193.3:c.93del NP_000184.1:p.Lys32ArgfsTer8
NM_000193.4:c.93del MANE Select NP_000184.1:p.Lys32ArgfsTer8
Search 100 bp 5'
Search 100 bp 3'