Canonical Allele Identifier: CA2685799432

Gene: SHH

Linked Data

• gnomAD v4: 7-155803299-G-GTGCCCCTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803299_155803300insTGCCCCTAA , CM000669.2:g.155803299_155803300insTGCCCCTAA	GRCh38
NC_000007.13:g.155595993_155595994insTGCCCCTAA , CM000669.1:g.155595993_155595994insTGCCCCTAA	GRCh37
NC_000007.12:g.155288754_155288755insTGCCCCTAA	NCBI36
NG_007504.2:g.13974_13975insTTAGGGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.989_990insTTAGGGGCA MANE Select	ENSP00000297261.2:p.Ala331Ter
ENST00000297261.6:c.989_990insTTAGGGGCA	ENSP00000297261.2:p.Ala331Ter
ENST00000430104.5:c.301+2996_301+2997insTTAGGGGCA	ENSP00000396621.1:n.301+2996_301+2997insTTAGGGGCA
ENST00000435425.1:c.302-2703_302-2702insTTAGGGGCA	ENSP00000413871.1:n.302-2703_302-2702insTTAGGGGCA
ENST00000441114.5:c.302-2633_302-2632insTTAGGGGCA	ENSP00000410546.1:n.302-2633_302-2632insTTAGGGGCA
NM_000193.2:c.989_990insTTAGGGGCA	NP_000184.1:p.Ala331Ter
NM_000193.3:c.989_990insTTAGGGGCA	NP_000184.1:p.Ala331Ter
NM_001310462.1:c.301+2996_301+2997insTTAGGGGCA	NP_001297391.1:n.301+2996_301+2997insTTAGGGGCA
NR_132318.1:n.472-2633_472-2632insTTAGGGGCA
NR_132319.1:n.472-2703_472-2702insTTAGGGGCA
XM_011516479.1:c.728_729insTTAGGGGCA	XP_011514781.1:p.Ala244Ter
XM_011516480.1:c.728_729insTTAGGGGCA	XP_011514782.1:p.Ala244Ter
XM_011516481.1:c.728_729insTTAGGGGCA	XP_011514783.1:p.Ala244Ter
XM_011516482.1:c.650_651insTTAGGGGCA	XP_011514784.1:p.Ala218Ter
XM_011516479.2:c.728_729insTTAGGGGCA	XP_011514781.1:p.Ala244Ter
XM_011516480.2:c.728_729insTTAGGGGCA	XP_011514782.1:p.Ala244Ter
NM_000193.4:c.989_990insTTAGGGGCA MANE Select	NP_000184.1:p.Ala331Ter
NM_001310462.2:c.301+2996_301+2997insTTAGGGGCA	NP_001297391.1:n.301+2996_301+2997insTTAGGGGCA
NR_132318.2:n.563-2633_563-2632insTTAGGGGCA
NR_132319.2:n.563-2703_563-2702insTTAGGGGCA