Canonical Allele Identifier: CA16043664
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 374270
ClinVar RCV Id: RCV000415165
dbSNP Id: rs1057518660
MyVariant Identifiers: chr7:g.155595699del (hg19) chr7:g.155803005del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155803006del , CM000669.2:g.155803006del GRCh38
NC_000007.13:g.155595700del , CM000669.1:g.155595700del GRCh37
NC_000007.12:g.155288461del NCBI36
NG_007504.2:g.14269del

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.1284del MANE Select ENSP00000297261.2:p.Thr429ProfsTer14
ENST00000297261.6:c.1284del ENSP00000297261.2:p.Thr429ProfsTer14
ENST00000430104.5:c.302-2760del ENSP00000396621.1:n.302-2760del
ENST00000435425.1:c.302-2408del ENSP00000413871.1:n.302-2408del
ENST00000441114.5:c.302-2338del ENSP00000410546.1:n.302-2338del
NM_000193.2:c.1284del NP_000184.1:p.Thr429ProfsTer14
NM_000193.3:c.1284del NP_000184.1:p.Thr429ProfsTer14
NM_001310462.1:c.302-2760del NP_001297391.1:n.302-2760del
NR_132318.1:n.472-2338del
NR_132319.1:n.472-2408del
XM_011516479.1:c.1023del XP_011514781.1:p.Thr342ProfsTer14
XM_011516480.1:c.1023del XP_011514782.1:p.Thr342ProfsTer14
XM_011516481.1:c.1023del XP_011514783.1:p.Thr342ProfsTer14
XM_011516482.1:c.945del XP_011514784.1:p.Thr316ProfsTer14
XM_011516479.2:c.1023del XP_011514781.1:p.Thr342ProfsTer14
XM_011516480.2:c.1023del XP_011514782.1:p.Thr342ProfsTer14
NM_000193.4:c.1284del MANE Select NP_000184.1:p.Thr429ProfsTer14
NM_001310462.2:c.302-2760del NP_001297391.1:n.302-2760del
NR_132318.2:n.563-2338del
NR_132319.2:n.563-2408del
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