Canonical Allele Identifier: CA345177

Gene: SHH

Linked Data

• ClinVar Variation Id: 65849
• ClinVar RCV Id: RCV000056089
• dbSNP Id: rs587778786
• MyVariant Identifiers: chr7:g.155595759_155595773del (hg19) ; chr7:g.155803065_155803079del (hg38)
• PubMed: PMID:10556296 ; PMID:20301702

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803068_155803082del , CM000669.2:g.155803068_155803082del	GRCh38
NC_000007.13:g.155595762_155595776del , CM000669.1:g.155595762_155595776del	GRCh37
NC_000007.12:g.155288523_155288537del	NCBI36
NG_007504.2:g.14197_14211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.1212_1226del MANE Select	ENSP00000297261.2:p.Asp405_Gly409del
ENST00000297261.6:c.1212_1226del	ENSP00000297261.2:p.Asp405_Gly409del
ENST00000430104.5:c.302-2832_302-2818del	ENSP00000396621.1:n.302-2832_302-2818del
ENST00000435425.1:c.302-2480_302-2466del	ENSP00000413871.1:n.302-2480_302-2466del
ENST00000441114.5:c.302-2410_302-2396del	ENSP00000410546.1:n.302-2410_302-2396del
NM_000193.2:c.1212_1226del	NP_000184.1:p.Asp405_Gly409del
NM_000193.3:c.1212_1226del	NP_000184.1:p.Asp405_Gly409del
NM_001310462.1:c.302-2832_302-2818del	NP_001297391.1:n.302-2832_302-2818del
NR_132318.1:n.472-2410_472-2396del
NR_132319.1:n.472-2480_472-2466del
XM_011516479.1:c.951_965del	XP_011514781.1:p.Asp318_Gly322del
XM_011516480.1:c.951_965del	XP_011514782.1:p.Asp318_Gly322del
XM_011516481.1:c.951_965del	XP_011514783.1:p.Asp318_Gly322del
XM_011516482.1:c.873_887del	XP_011514784.1:p.Asp292_Gly296del
XM_011516479.2:c.951_965del	XP_011514781.1:p.Asp318_Gly322del
XM_011516480.2:c.951_965del	XP_011514782.1:p.Asp318_Gly322del
NM_000193.4:c.1212_1226del MANE Select	NP_000184.1:p.Asp405_Gly409del
NM_001310462.2:c.302-2832_302-2818del	NP_001297391.1:n.302-2832_302-2818del
NR_132318.2:n.563-2410_563-2396del
NR_132319.2:n.563-2480_563-2466del