Canonical Allele Identifier: CA624867863

Gene: GUCY2D

Linked Data

• dbSNP Id: rs1380952068
• gnomAD v2: 17-7915695-CGT-C
• MyVariant Identifiers: chr17:g.7915696_7915697del (hg19) ; chr17:g.8012378_8012379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012378_8012379del , CM000679.2:g.8012378_8012379del	GRCh38
NC_000017.10:g.7915696_7915697del , CM000679.1:g.7915696_7915697del	GRCh37
NC_000017.9:g.7856421_7856422del	NCBI36
NG_009092.1:g.14709_14710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1956+28_1956+29del MANE Select	ENSP00000254854.4:n.1956+28_1956+29del
ENST00000254854.4:c.1956+28_1956+29del	ENSP00000254854.4:n.1956+28_1956+29del
NM_000180.3:c.1956+28_1956+29del	NP_000171.1:n.1956+28_1956+29del
XM_011523816.1:c.1956+28_1956+29del	XP_011522118.1:n.1956+28_1956+29del
NM_000180.4:c.1956+28_1956+29del MANE Select	NP_000171.1:n.1956+28_1956+29del