Canonical Allele Identifier: CA919876396

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1555596407

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917811del , CM000679.2:g.63917811del	GRCh38
NC_000017.10:g.61995171del , CM000679.1:g.61995171del	GRCh37
NC_000017.9:g.59348903del	NCBI36
NG_011676.1:g.6028del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.405del (GH1) MANE Select	ENSP00000312673.5:p.Asn135LysfsTer6
ENST00000647774.1:c.683del
ENST00000323322.9:c.405del (GH1)	ENSP00000312673.5:p.Asn135LysfsTer6
ENST00000342364.8:c.172-305del (GH1)	ENSP00000339278.4:n.172-305del
ENST00000351388.8:c.285del (GH1)	ENSP00000343791.4:p.Asn95LysfsTer6
ENST00000392824.8:c.10+956del (CSHL1)	ENSP00000376569.5:n.10+956del
ENST00000458650.6:c.360del (GH1)	ENSP00000408486.2:p.Asn120LysfsTer6
ENST00000579711.1:n.766del (GH1)
ENST00000617086.1:c.11-305del (GH1)	ENSP00000481276.1:n.11-305del
NM_000515.4:c.405del (GH1)	NP_000506.2:p.Asn135LysfsTer6
NM_022559.3:c.360del (GH1)	NP_072053.1:p.Asn120LysfsTer6
NM_022560.3:c.285del (GH1)	NP_072054.1:p.Asn95LysfsTer6
XM_011524612.1:c.405del (GH1)	XP_011522914.1:p.Asn135LysfsTer6
XR_002958148.1:n.410del
NM_000515.5:c.405del (GH1) MANE Select	NP_000506.2:p.Asn135LysfsTer6
NM_022559.4:c.360del (GH1)	NP_072053.1:p.Asn120LysfsTer6
NM_022560.4:c.285del (GH1)	NP_072054.1:p.Asn95LysfsTer6