Canonical Allele Identifier: CA2840382285
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003673dup , CM000679.2:g.8003673dup GRCh38
NC_000017.10:g.7906991dup , CM000679.1:g.7906991dup GRCh37
NC_000017.9:g.7847716dup NCBI36
NG_009092.1:g.6004dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.626dup MANE Select ENSP00000254854.4:p.Leu210ProfsTer?
ENST00000254854.4:c.626dup ENSP00000254854.4:p.Leu210ProfsTer?
NM_000180.3:c.626dup NP_000171.1:p.Leu210ProfsTer?
XM_011523816.1:c.626dup XP_011522118.1:p.Leu210ProfsTer?
NM_000180.4:c.626dup MANE Select NP_000171.1:p.Leu210ProfsTer?