Canonical Allele Identifier: CA624868031

Gene: GUCY2D

Linked Data

• dbSNP Id: rs1480210751
• gnomAD v2: 17-7919189-TGGGAGGGGGACAC-T
• gnomAD v3: 17-8015871-TGGGAGGGGGACAC-T
• gnomAD v4: 17-8015871-TGGGAGGGGGACAC-T
• MyVariant Identifiers: chr17:g.7919190_7919202del (hg19) ; chr17:g.8015872_8015884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015878_8015890del , CM000679.2:g.8015878_8015890del	GRCh38
NC_000017.10:g.7919196_7919208del , CM000679.1:g.7919196_7919208del	GRCh37
NC_000017.9:g.7859921_7859933del	NCBI36
NG_009092.1:g.18209_18221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.3043+37_3044-37del MANE Select	ENSP00000254854.4:n.3043+37_3044-37del
ENST00000254854.4:c.3043+37_3044-37del	ENSP00000254854.4:n.3043+37_3044-37del
NM_000180.3:c.3043+37_3044-37del	NP_000171.1:n.3043+37_3044-37del
XM_011523816.1:c.3043+37_3044-37del	XP_011522118.1:n.3043+37_3044-37del
NM_000180.4:c.3043+37_3044-37del MANE Select	NP_000171.1:n.3043+37_3044-37del