Canonical Allele Identifier: CA2810124874

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917763dup , CM000679.2:g.63917763dup	GRCh38
NC_000017.10:g.61995123dup , CM000679.1:g.61995123dup	GRCh37
NC_000017.9:g.59348855dup	NCBI36
NG_011676.1:g.6080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.456+1dup (GH1)
ENST00000647774.1:c.734+1dup
ENST00000323322.9:c.456+1dup (GH1)
ENST00000342364.8:c.172-253dup (GH1)	ENSP00000339278.4:n.172-253dup
ENST00000351388.8:c.336+1dup (GH1)
ENST00000392824.8:c.10+1008dup (CSHL1)	ENSP00000376569.5:n.10+1008dup
ENST00000458650.6:c.411+1dup (GH1)
ENST00000579711.1:n.817+1dup (GH1)
ENST00000617086.1:c.11-253dup (GH1)	ENSP00000481276.1:n.11-253dup
NM_000515.4:c.456+1dup (GH1)
NM_022559.3:c.411+1dup (GH1)
NM_022560.3:c.336+1dup (GH1)
XM_011524612.1:c.456+1dup (GH1)
XR_002958148.1:n.389-27dup
NM_000515.5:c.456+1dup (GH1)
NM_022559.4:c.411+1dup (GH1)
NM_022560.4:c.336+1dup (GH1)