Canonical Allele Identifier: CA2270149476

Gene: GH1 CSHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917939_63917940delinsCG , CM000679.2:g.63917939_63917940delinsCG	GRCh38
NC_000017.10:g.61995299_61995300delinsCG , CM000679.1:g.61995299_61995300delinsCG	GRCh37
NC_000017.9:g.59349031_59349032delinsCG	NCBI36
NG_011676.1:g.5899_5900delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.292-16_292-15delinsCG (GH1) MANE Select	ENSP00000312673.5:n.292-16_292-15delinsCG
ENST00000647774.1:c.570-16_570-15delinsCG
ENST00000323322.9:c.292-16_292-15delinsCG (GH1)	ENSP00000312673.5:n.292-16_292-15delinsCG
ENST00000342364.8:c.171+406_171+407delinsCG (GH1)	ENSP00000339278.4:n.171+406_171+407delinsCG
ENST00000351388.8:c.172-16_172-15delinsCG (GH1)	ENSP00000343791.4:n.172-16_172-15delinsCG
ENST00000392824.8:c.10+827_10+828delinsCG (CSHL1)	ENSP00000376569.5:n.10+827_10+828delinsCG
ENST00000458650.6:c.247-16_247-15delinsCG (GH1)	ENSP00000408486.2:n.247-16_247-15delinsCG
ENST00000579711.1:n.653-16_653-15delinsCG (GH1)
ENST00000617086.1:c.11-434_11-433delinsCG (GH1)	ENSP00000481276.1:n.11-434_11-433delinsCG
NM_000515.4:c.292-16_292-15delinsCG (GH1)	NP_000506.2:n.292-16_292-15delinsCG
NM_022559.3:c.247-16_247-15delinsCG (GH1)	NP_072053.1:n.247-16_247-15delinsCG
NM_022560.3:c.172-16_172-15delinsCG (GH1)	NP_072054.1:n.172-16_172-15delinsCG
XM_011524612.1:c.292-16_292-15delinsCG (GH1)	XP_011522914.1:n.292-16_292-15delinsCG
NM_000515.5:c.292-16_292-15delinsCG (GH1) MANE Select	NP_000506.2:n.292-16_292-15delinsCG
NM_022559.4:c.247-16_247-15delinsCG (GH1)	NP_072053.1:n.247-16_247-15delinsCG
NM_022560.4:c.172-16_172-15delinsCG (GH1)	NP_072054.1:n.172-16_172-15delinsCG