Canonical Allele Identifier: CA478710060

Gene: GUCY2C C12orf60

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14625901del , CM000674.2:g.14625901del	GRCh38
NC_000012.11:g.14778835del , CM000674.1:g.14778835del	GRCh37
NC_000012.10:g.14670102del	NCBI36
NG_052021.1:g.75691del

Transcript Alleles

HGVS	Amino-acid Change
NM_004963.4:c.2270del (GUCY2C) MANE Select	NP_004954.2:p.Asn757MetfsTer8
ENST00000261170.5:c.2270del (GUCY2C) MANE Select	ENSP00000261170.3:p.Asn757MetfsTer8
NM_004963.3:c.2270del (GUCY2C)	NP_004954.2:p.Asn757MetfsTer8
ENST00000261170.4:c.2270del (GUCY2C)	ENSP00000261170.3:p.Asn757MetfsTer8
XM_011520631.1:c.2024del (GUCY2C)	XP_011518933.1:p.Asn675MetfsTer8
XM_011520631.2:c.2024del (GUCY2C)	XP_011518933.1:p.Asn675MetfsTer8
XR_001748595.1:n.700+5985del (C12orf60)
XR_001748596.1:n.700+5985del (C12orf60)
XR_001748597.1:n.700+5985del (C12orf60)
XR_001748598.2:n.700+5985del (C12orf60)
XR_001748599.1:n.700+5985del (C12orf60)