Canonical Allele Identifier: CA919876394

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1555596403

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917810del , CM000679.2:g.63917810del	GRCh38
NC_000017.10:g.61995170del , CM000679.1:g.61995170del	GRCh37
NC_000017.9:g.59348902del	NCBI36
NG_011676.1:g.6029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.406del (GH1) MANE Select	ENSP00000312673.5:p.Val136SerfsTer5
ENST00000647774.1:c.684del
ENST00000323322.9:c.406del (GH1)	ENSP00000312673.5:p.Val136SerfsTer5
ENST00000342364.8:c.172-304del (GH1)	ENSP00000339278.4:n.172-304del
ENST00000351388.8:c.286del (GH1)	ENSP00000343791.4:p.Val96SerfsTer5
ENST00000392824.8:c.10+957del (CSHL1)	ENSP00000376569.5:n.10+957del
ENST00000458650.6:c.361del (GH1)	ENSP00000408486.2:p.Val121SerfsTer5
ENST00000579711.1:n.767del (GH1)
ENST00000617086.1:c.11-304del (GH1)	ENSP00000481276.1:n.11-304del
NM_000515.4:c.406del (GH1)	NP_000506.2:p.Val136SerfsTer5
NM_022559.3:c.361del (GH1)	NP_072053.1:p.Val121SerfsTer5
NM_022560.3:c.286del (GH1)	NP_072054.1:p.Val96SerfsTer5
XM_011524612.1:c.406del (GH1)	XP_011522914.1:p.Val136SerfsTer5
XR_002958148.1:n.409del
NM_000515.5:c.406del (GH1) MANE Select	NP_000506.2:p.Val136SerfsTer5
NM_022559.4:c.361del (GH1)	NP_072053.1:p.Val121SerfsTer5
NM_022560.4:c.286del (GH1)	NP_072054.1:p.Val96SerfsTer5