Canonical Allele Identifier: CA627150114

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1567802462
• gnomAD v2: 17-61995085-GC-G
• gnomAD v4: 17-63917725-GC-G
• MyVariant Identifiers: chr17:g.61995086del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917726del , CM000679.2:g.63917726del	GRCh38
NC_000017.10:g.61995086del , CM000679.1:g.61995086del	GRCh37
NC_000017.9:g.59348818del	NCBI36
NG_011676.1:g.6113del

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.456+34del (GH1) MANE Select	ENSP00000312673.5:n.456+34del
ENST00000647774.1:c.734+34del
ENST00000323322.9:c.456+34del (GH1)	ENSP00000312673.5:n.456+34del
ENST00000342364.8:c.172-220del (GH1)	ENSP00000339278.4:n.172-220del
ENST00000351388.8:c.336+34del (GH1)	ENSP00000343791.4:n.336+34del
ENST00000392824.8:c.10+1041del (CSHL1)	ENSP00000376569.5:n.10+1041del
ENST00000458650.6:c.411+34del (GH1)	ENSP00000408486.2:n.411+34del
ENST00000579711.1:n.817+34del (GH1)
ENST00000617086.1:c.11-220del (GH1)	ENSP00000481276.1:n.11-220del
NM_000515.4:c.456+34del (GH1)	NP_000506.2:n.456+34del
NM_022559.3:c.411+34del (GH1)	NP_072053.1:n.411+34del
NM_022560.3:c.336+34del (GH1)	NP_072054.1:n.336+34del
XM_011524612.1:c.456+34del (GH1)	XP_011522914.1:n.456+34del
XR_002958148.1:n.389-64del
NM_000515.5:c.456+34del (GH1) MANE Select	NP_000506.2:n.456+34del
NM_022559.4:c.411+34del (GH1)	NP_072053.1:n.411+34del
NM_022560.4:c.336+34del (GH1)	NP_072054.1:n.336+34del