Canonical Allele Identifier: CA2270149587

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 1033063
• ClinVar RCV Id: RCV001335367
• dbSNP Id: rs1907477324

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918113_63918120delinsCTCCTTCA , CM000679.2:g.63918113_63918120delinsCTCCTTCA	GRCh38
NC_000017.10:g.61995473_61995480delinsCTCCTTCA , CM000679.1:g.61995473_61995480delinsCTCCTTCA	GRCh37
NC_000017.9:g.59349205_59349212delinsCTCCTTCA	NCBI36
NG_011676.1:g.5719_5726delinsTGAAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.188_195delinsTGAAGGAG (GH1) MANE Select	ENSP00000312673.5:p.Pro63Leu
ENST00000647774.1:c.466_473delinsTGAAGGAG
ENST00000323322.9:c.188_195delinsTGAAGGAG (GH1)	ENSP00000312673.5:p.Pro63Leu
ENST00000342364.8:c.171+226_171+233delinsTGAAGGAG (GH1)	ENSP00000339278.4:n.171+226_171+233delinsTGAAGGAG
ENST00000351388.8:c.172-196_172-189delinsTGAAGGAG (GH1)	ENSP00000343791.4:n.172-196_172-189delinsTGAAGGAG
ENST00000392824.8:c.10+647_10+654delinsTGAAGGAG (CSHL1)	ENSP00000376569.5:n.10+647_10+654delinsTGAAGGAG
ENST00000458650.6:c.172-29_172-22delinsTGAAGGAG (GH1)	ENSP00000408486.2:n.172-29_172-22delinsTGAAGGAG
ENST00000579711.1:n.549_556delinsTGAAGGAG (GH1)
ENST00000617086.1:c.11-614_11-607delinsTGAAGGAG (GH1)	ENSP00000481276.1:n.11-614_11-607delinsTGAAGGAG
NM_000515.4:c.188_195delinsTGAAGGAG (GH1)	NP_000506.2:p.Pro63Leu
NM_022559.3:c.172-29_172-22delinsTGAAGGAG (GH1)	NP_072053.1:n.172-29_172-22delinsTGAAGGAG
NM_022560.3:c.172-196_172-189delinsTGAAGGAG (GH1)	NP_072054.1:n.172-196_172-189delinsTGAAGGAG
XM_011524612.1:c.188_195delinsTGAAGGAG (GH1)	XP_011522914.1:p.Pro63Leu
NM_000515.5:c.188_195delinsTGAAGGAG (GH1) MANE Select	NP_000506.2:p.Pro63Leu
NM_022559.4:c.172-29_172-22delinsTGAAGGAG (GH1)	NP_072053.1:n.172-29_172-22delinsTGAAGGAG
NM_022560.4:c.172-196_172-189delinsTGAAGGAG (GH1)	NP_072054.1:n.172-196_172-189delinsTGAAGGAG