Canonical Allele Identifier: CA2639307195

Gene: GH1 CSHL1

Linked Data

• gnomAD v4: 17-63917591-CTTCAGGGTGTAGAGAAAGGCCTGGAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917596_63917623del , CM000679.2:g.63917596_63917623del	GRCh38
NC_000017.10:g.61994956_61994983del , CM000679.1:g.61994956_61994983del	GRCh37
NC_000017.9:g.59348688_59348715del	NCBI36
NG_011676.1:g.6220_6247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.457-113_457-86del (GH1) MANE Select	ENSP00000312673.5:n.457-113_457-86del
ENST00000647774.1:c.735-113_735-86del
ENST00000323322.9:c.457-113_457-86del (GH1)	ENSP00000312673.5:n.457-113_457-86del
ENST00000342364.8:c.172-113_172-86del (GH1)	ENSP00000339278.4:n.172-113_172-86del
ENST00000351388.8:c.337-113_337-86del (GH1)	ENSP00000343791.4:n.337-113_337-86del
ENST00000392824.8:c.10+1148_10+1175del (CSHL1)	ENSP00000376569.5:n.10+1148_10+1175del
ENST00000458650.6:c.412-113_412-86del (GH1)	ENSP00000408486.2:n.412-113_412-86del
ENST00000579711.1:n.818-113_818-86del (GH1)
ENST00000617086.1:c.11-113_11-86del (GH1)	ENSP00000481276.1:n.11-113_11-86del
NM_000515.4:c.457-113_457-86del (GH1)	NP_000506.2:n.457-113_457-86del
NM_022559.3:c.412-113_412-86del (GH1)	NP_072053.1:n.412-113_412-86del
NM_022560.3:c.337-113_337-86del (GH1)	NP_072054.1:n.337-113_337-86del
XM_011524612.1:c.457-113_457-86del (GH1)	XP_011522914.1:n.457-113_457-86del
XR_002958148.1:n.341-1_367del
NM_000515.5:c.457-113_457-86del (GH1) MANE Select	NP_000506.2:n.457-113_457-86del
NM_022559.4:c.412-113_412-86del (GH1)	NP_072053.1:n.412-113_412-86del
NM_022560.4:c.337-113_337-86del (GH1)	NP_072054.1:n.337-113_337-86del