Canonical Allele Identifier: CA2695224308

Gene: GUCY2D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015755_8015783del , CM000679.2:g.8015755_8015783del	GRCh38
NC_000017.10:g.7919073_7919101del , CM000679.1:g.7919073_7919101del	GRCh37
NC_000017.9:g.7859798_7859826del	NCBI36
NG_009092.1:g.18086_18114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2957_2985del MANE Select	ENSP00000254854.4:p.Ala986ValfsTer?
ENST00000254854.4:c.2957_2985del	ENSP00000254854.4:p.Ala986ValfsTer?
NM_000180.3:c.2957_2985del	NP_000171.1:p.Ala986ValfsTer?
XM_011523816.1:c.2957_2985del	XP_011522118.1:p.Ala986ValfsTer?
NM_000180.4:c.2957_2985del MANE Select	NP_000171.1:p.Ala986ValfsTer?