Canonical Allele Identifier: CA919876392

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1555596405

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917810_63917811delinsA , CM000679.2:g.63917810_63917811delinsA	GRCh38
NC_000017.10:g.61995170_61995171delinsA , CM000679.1:g.61995170_61995171delinsA	GRCh37
NC_000017.9:g.59348902_59348903delinsA	NCBI36
NG_011676.1:g.6028_6029delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.405_406delinsT (GH1) MANE Select	ENSP00000312673.5:p.Val136SerfsTer5
ENST00000647774.1:c.683_684delinsT
ENST00000323322.9:c.405_406delinsT (GH1)	ENSP00000312673.5:p.Val136SerfsTer5
ENST00000342364.8:c.172-305_172-304delinsT (GH1)	ENSP00000339278.4:n.172-305_172-304delins...
ENST00000351388.8:c.285_286delinsT (GH1)	ENSP00000343791.4:p.Val96SerfsTer5
ENST00000392824.8:c.10+956_10+957delinsT (CSHL1)	ENSP00000376569.5:n.10+956_10+957delinsT
ENST00000458650.6:c.360_361delinsT (GH1)	ENSP00000408486.2:p.Val121SerfsTer5
ENST00000579711.1:n.766_767delinsT (GH1)
ENST00000617086.1:c.11-305_11-304delinsT (GH1)	ENSP00000481276.1:n.11-305_11-304delinsT
NM_000515.4:c.405_406delinsT (GH1)	NP_000506.2:p.Val136SerfsTer5
NM_022559.3:c.360_361delinsT (GH1)	NP_072053.1:p.Val121SerfsTer5
NM_022560.3:c.285_286delinsT (GH1)	NP_072054.1:p.Val96SerfsTer5
XM_011524612.1:c.405_406delinsT (GH1)	XP_011522914.1:p.Val136SerfsTer5
XR_002958148.1:n.409_410delinsA
NM_000515.5:c.405_406delinsT (GH1) MANE Select	NP_000506.2:p.Val136SerfsTer5
NM_022559.4:c.360_361delinsT (GH1)	NP_072053.1:p.Val121SerfsTer5
NM_022560.4:c.285_286delinsT (GH1)	NP_072054.1:p.Val96SerfsTer5