Canonical Allele Identifier: CA2635949843
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8012455-AAGGTATCTGCACCATCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012459_8012475del , CM000679.2:g.8012459_8012475del GRCh38
NC_000017.10:g.7915777_7915793del , CM000679.1:g.7915777_7915793del GRCh37
NC_000017.9:g.7856502_7856518del NCBI36
NG_009092.1:g.14790_14806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1966_1982del MANE Select ENSP00000254854.4:p.Tyr656ArgfsTer23
ENST00000254854.4:c.1966_1982del ENSP00000254854.4:p.Tyr656ArgfsTer23
NM_000180.3:c.1966_1982del NP_000171.1:p.Tyr656ArgfsTer23
XM_011523816.1:c.1966_1982del XP_011522118.1:p.Tyr656ArgfsTer23
NM_000180.4:c.1966_1982del MANE Select NP_000171.1:p.Tyr656ArgfsTer23
Search 100 bp 5'
Search 100 bp 3'