Canonical Allele Identifier: CA835742188
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1373214490
MyVariant Identifiers: chr7:g.155604928_155604929insGGCTCGCCCGCTCGCTCT (hg19) chr7:g.155812234_155812235insGGCTCGCCCGCTCGCTCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812235_155812252dup , CM000669.2:g.155812235_155812252dup GRCh38
NC_000007.13:g.155604929_155604946dup , CM000669.1:g.155604929_155604946dup GRCh37
NC_000007.12:g.155297690_155297707dup NCBI36
NG_007504.2:g.5022_5039dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-130_-113dup MANE Select ENSP00000297261.2:n.-130_-113dup
ENST00000297261.6:c.-130_-113dup ENSP00000297261.2:n.-130_-113dup
NM_000193.2:c.-130_-113dup NP_000184.1:n.-130_-113dup
NM_000193.3:c.-130_-113dup NP_000184.1:n.-130_-113dup
NM_000193.4:c.-130_-113dup MANE Select NP_000184.1:n.-130_-113dup
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