Canonical Allele Identifier: CA578816857
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1398790873
gnomAD v2: 7-155604909-C-CGCTTT
gnomAD v3: 7-155812215-C-CGCTTT
gnomAD v4: 7-155812215-C-CGCTTT
MyVariant Identifiers: chr7:g.155604909_155604910insGCTTT (hg19) chr7:g.155812215_155812216insGCTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812216_155812220dup , CM000669.2:g.155812216_155812220dup GRCh38
NC_000007.13:g.155604910_155604914dup , CM000669.1:g.155604910_155604914dup GRCh37
NC_000007.12:g.155297671_155297675dup NCBI36
NG_007504.2:g.5054_5058dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-98_-94dup MANE Select ENSP00000297261.2:n.-98_-94dup
ENST00000297261.6:c.-98_-94dup ENSP00000297261.2:n.-98_-94dup
NM_000193.2:c.-98_-94dup NP_000184.1:n.-98_-94dup
NM_000193.3:c.-98_-94dup NP_000184.1:n.-98_-94dup
NM_000193.4:c.-98_-94dup MANE Select NP_000184.1:n.-98_-94dup
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