Canonical Allele Identifier: CA2685803504

Gene: SHH

Linked Data

• gnomAD v4: 7-155812170-TGCGCGAGTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812176_155812185del , CM000669.2:g.155812176_155812185del	GRCh38
NC_000007.13:g.155604870_155604879del , CM000669.1:g.155604870_155604879del	GRCh37
NC_000007.12:g.155297631_155297640del	NCBI36
NG_007504.2:g.5094_5103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-58_-49del MANE Select	ENSP00000297261.2:n.-58_-49del
ENST00000297261.6:c.-58_-49del	ENSP00000297261.2:n.-58_-49del
NM_000193.2:c.-58_-49del	NP_000184.1:n.-58_-49del
NM_000193.3:c.-58_-49del	NP_000184.1:n.-58_-49del
NM_000193.4:c.-58_-49del MANE Select	NP_000184.1:n.-58_-49del