Canonical Allele Identifier: CA1109097312

Gene: SHH

Linked Data

• dbSNP Id: rs1803538341
• gnomAD v3: 7-155812178-TGC-T
• gnomAD v4: 7-155812178-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812184_155812185del , CM000669.2:g.155812184_155812185del	GRCh38
NC_000007.13:g.155604878_155604879del , CM000669.1:g.155604878_155604879del	GRCh37
NC_000007.12:g.155297639_155297640del	NCBI36
NG_007504.2:g.5094_5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-58_-57del MANE Select	ENSP00000297261.2:n.-58_-57del
ENST00000297261.6:c.-58_-57del	ENSP00000297261.2:n.-58_-57del
NM_000193.2:c.-58_-57del	NP_000184.1:n.-58_-57del
NM_000193.3:c.-58_-57del	NP_000184.1:n.-58_-57del
NM_000193.4:c.-58_-57del MANE Select	NP_000184.1:n.-58_-57del