Canonical Allele Identifier: CA2685803721
Gene: SHH HGNC NCBI

Linked Data

gnomAD v4: 7-155812263-GGCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812266_155812268del , CM000669.2:g.155812266_155812268del GRCh38
NC_000007.13:g.155604960_155604962del , CM000669.1:g.155604960_155604962del GRCh37
NC_000007.12:g.155297721_155297723del NCBI36
NG_007504.2:g.5008_5010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-144_-142del MANE Select ENSP00000297261.2:n.-144_-142del
ENST00000297261.6:c.-144_-142del ENSP00000297261.2:n.-144_-142del
NM_000193.2:c.-144_-142del NP_000184.1:n.-144_-142del
NM_000193.3:c.-144_-142del NP_000184.1:n.-144_-142del
NM_000193.4:c.-144_-142del MANE Select NP_000184.1:n.-144_-142del
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