Canonical Allele Identifier: CA8365986

Gene: GUCY2D

Linked Data

• ExAC: 17:7915893 G / GACCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCA
• MyVariant Identifiers: chr17:g.7915893_7915894insACCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA , CM000679.2:g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	GRCh38
NC_000017.10:g.7915894_7915895insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA , CM000679.1:g.7915894_7915895insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	GRCh37
NC_000017.9:g.7856619_7856620insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	NCBI36
NG_009092.1:g.14907_14908insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA MANE Select	ENSP00000254854.4:p.Lys695ThrfsTer12
ENST00000254854.4:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	ENSP00000254854.4:p.Lys695ThrfsTer12
NM_000180.3:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	NP_000171.1:p.Lys695ThrfsTer12
XM_011523816.1:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA	XP_011522118.1:p.Lys695ThrfsTer12
NM_000180.4:c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA MANE Select	NP_000171.1:p.Lys695ThrfsTer12