Canonical Allele Identifier: CA2573154592

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 15973
• ClinVar RCV Id: RCV000017343
• dbSNP Id: rs2144738731

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917972_63917989del , CM000679.2:g.63917972_63917989del	GRCh38
NC_000017.10:g.61995332_61995349del , CM000679.1:g.61995332_61995349del	GRCh37
NC_000017.9:g.59349064_59349081del	NCBI36
NG_011676.1:g.5851_5868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+29_292-47del (GH1) MANE Select	ENSP00000312673.5:n.291+29_292-47del
ENST00000647774.1:c.569+29_570-47del
ENST00000323322.9:c.291+29_292-47del (GH1)	ENSP00000312673.5:n.291+29_292-47del
ENST00000342364.8:c.171+358_171+375del (GH1)	ENSP00000339278.4:n.171+358_171+375del
ENST00000351388.8:c.172-64_172-47del (GH1)	ENSP00000343791.4:n.172-64_172-47del
ENST00000392824.8:c.10+779_10+796del (CSHL1)	ENSP00000376569.5:n.10+779_10+796del
ENST00000458650.6:c.246+29_247-47del (GH1)	ENSP00000408486.2:n.246+29_247-47del
ENST00000579711.1:n.652+29_653-47del (GH1)
ENST00000617086.1:c.11-482_11-465del (GH1)	ENSP00000481276.1:n.11-482_11-465del
NM_000515.4:c.291+29_292-47del (GH1)	NP_000506.2:n.291+29_292-47del
NM_022559.3:c.246+29_247-47del (GH1)	NP_072053.1:n.246+29_247-47del
NM_022560.3:c.172-64_172-47del (GH1)	NP_072054.1:n.172-64_172-47del
XM_011524612.1:c.291+29_292-47del (GH1)	XP_011522914.1:n.291+29_292-47del
NM_000515.5:c.291+29_292-47del (GH1) MANE Select	NP_000506.2:n.291+29_292-47del
NM_022559.4:c.246+29_247-47del (GH1)	NP_072053.1:n.246+29_247-47del
NM_022560.4:c.172-64_172-47del (GH1)	NP_072054.1:n.172-64_172-47del