Canonical Allele Identifier: CA578816829
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1158570991
gnomAD v2: 7-155604796-A-ACATCTCGCCAGCAGCAGC
gnomAD v3: 7-155812102-A-ACATCTCGCCAGCAGCAGC
gnomAD v4: 7-155812102-A-ACATCTCGCCAGCAGCAGC
MyVariant Identifiers: chr7:g.155604796_155604797insCATCTCGCCAGCAGCAGC (hg19) chr7:g.155812102_155812103insCATCTCGCCAGCAGCAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812103_155812120dup , CM000669.2:g.155812103_155812120dup GRCh38
NC_000007.13:g.155604797_155604814dup , CM000669.1:g.155604797_155604814dup GRCh37
NC_000007.12:g.155297558_155297575dup NCBI36
NG_007504.2:g.5154_5171dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.3_20dup MANE Select ENSP00000297261.2:p.Arg6_Cys7insTrpLeuLeuLeuAlaArg
ENST00000297261.6:c.3_20dup ENSP00000297261.2:p.Arg6_Cys7insTrpLeuLeuLeuAlaArg
NM_000193.2:c.3_20dup NP_000184.1:p.Arg6_Cys7insTrpLeuLeuLeuAlaArg
NM_000193.3:c.3_20dup NP_000184.1:p.Arg6_Cys7insTrpLeuLeuLeuAlaArg
NM_000193.4:c.3_20dup MANE Select NP_000184.1:p.Arg6_Cys7insTrpLeuLeuLeuAlaArg
Search 100 bp 5'
Search 100 bp 3'