Canonical Allele Identifier: CA658657741

Gene: SHH

Linked Data

• ClinVar Variation Id: 449796
• ClinVar RCV Id: RCV000519845
• dbSNP Id: rs1554493633
• MyVariant Identifiers: chr7:g.155595725dup (hg19) ; chr7:g.155803031dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803031dup , CM000669.2:g.155803031dup	GRCh38
NC_000007.13:g.155595725dup , CM000669.1:g.155595725dup	GRCh37
NC_000007.12:g.155288486dup	NCBI36
NG_007504.2:g.14243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.1258dup MANE Select	ENSP00000297261.2:p.Ala420GlyfsTer?
ENST00000297261.6:c.1258dup	ENSP00000297261.2:p.Ala420GlyfsTer?
ENST00000430104.5:c.302-2786dup	ENSP00000396621.1:n.302-2786dup
ENST00000435425.1:c.302-2434dup	ENSP00000413871.1:n.302-2434dup
ENST00000441114.5:c.302-2364dup	ENSP00000410546.1:n.302-2364dup
NM_000193.2:c.1258dup	NP_000184.1:p.Ala420GlyfsTer?
NM_000193.3:c.1258dup	NP_000184.1:p.Ala420GlyfsTer?
NM_001310462.1:c.302-2786dup	NP_001297391.1:n.302-2786dup
NR_132318.1:n.472-2364dup
NR_132319.1:n.472-2434dup
XM_011516479.1:c.997dup	XP_011514781.1:p.Ala333GlyfsTer?
XM_011516480.1:c.997dup	XP_011514782.1:p.Ala333GlyfsTer?
XM_011516481.1:c.997dup	XP_011514783.1:p.Ala333GlyfsTer?
XM_011516482.1:c.919dup	XP_011514784.1:p.Ala307GlyfsTer?
XM_011516479.2:c.997dup	XP_011514781.1:p.Ala333GlyfsTer?
XM_011516480.2:c.997dup	XP_011514782.1:p.Ala333GlyfsTer?
NM_000193.4:c.1258dup MANE Select	NP_000184.1:p.Ala420GlyfsTer?
NM_001310462.2:c.302-2786dup	NP_001297391.1:n.302-2786dup
NR_132318.2:n.563-2364dup
NR_132319.2:n.563-2434dup