Canonical Allele Identifier: CA775512614
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1253798943
gnomAD v3: 17-8012066-CAAAAACAGATCTT-C
gnomAD v4: 17-8012066-CAAAAACAGATCTT-C
MyVariant Identifiers: chr17:g.7915385_7915397del (hg19) chr17:g.8012067_8012079del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012067_8012079del , CM000679.2:g.8012067_8012079del GRCh38
NC_000017.10:g.7915385_7915397del , CM000679.1:g.7915385_7915397del GRCh37
NC_000017.9:g.7856110_7856122del NCBI36
NG_009092.1:g.14398_14410del

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.1750-77_1750-65del MANE Select ENSP00000254854.4:n.1750-77_1750-65del
ENST00000254854.4:c.1750-77_1750-65del ENSP00000254854.4:n.1750-77_1750-65del
NM_000180.3:c.1750-77_1750-65del NP_000171.1:n.1750-77_1750-65del
XM_011523816.1:c.1750-77_1750-65del XP_011522118.1:n.1750-77_1750-65del
NM_000180.4:c.1750-77_1750-65del MANE Select NP_000171.1:n.1750-77_1750-65del
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