Canonical Allele Identifier: CA2270149411

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917810_63917811delinsCG , CM000679.2:g.63917810_63917811delinsCG	GRCh38
NC_000017.10:g.61995170_61995171delinsCG , CM000679.1:g.61995170_61995171delinsCG	GRCh37
NC_000017.9:g.59348902_59348903delinsCG	NCBI36
NG_011676.1:g.6028_6029delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.405_406delinsCG (GH1) MANE Select	ENSP00000312673.5:p.Asn135=
ENST00000647774.1:c.683_684delinsCG
ENST00000323322.9:c.405_406delinsCG (GH1)	ENSP00000312673.5:p.Asn135=
ENST00000342364.8:c.172-305_172-304delinsCG (GH1)	ENSP00000339278.4:n.172-305_172-304delins...
ENST00000351388.8:c.285_286delinsCG (GH1)	ENSP00000343791.4:p.Asn95=
ENST00000392824.8:c.10+956_10+957delinsCG (CSHL1)	ENSP00000376569.5:n.10+956_10+957delinsCG...
ENST00000458650.6:c.360_361delinsCG (GH1)	ENSP00000408486.2:p.Asn120=
ENST00000579711.1:n.766_767delinsCG (GH1)
ENST00000617086.1:c.11-305_11-304delinsCG (GH1)	ENSP00000481276.1:n.11-305_11-304delinsCG...
NM_000515.4:c.405_406delinsCG (GH1)	NP_000506.2:p.Asn135=
NM_022559.3:c.360_361delinsCG (GH1)	NP_072053.1:p.Asn120=
NM_022560.3:c.285_286delinsCG (GH1)	NP_072054.1:p.Asn95=
XM_011524612.1:c.405_406delinsCG (GH1)	XP_011522914.1:p.Asn135=
XR_002958148.1:n.409_410delinsCG
NM_000515.5:c.405_406delinsCG (GH1) MANE Select	NP_000506.2:p.Asn135=
NM_022559.4:c.360_361delinsCG (GH1)	NP_072053.1:p.Asn120=
NM_022560.4:c.285_286delinsCG (GH1)	NP_072054.1:p.Asn95=