Canonical Allele Identifier: CA2688217175

Gene: DPYS

Linked Data

• gnomAD v4: 8-104466985-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104466985_104466986insA , CM000670.2:g.104466985_104466986insA	GRCh38
NC_000008.10:g.105479213_105479214insA , CM000670.1:g.105479213_105479214insA	GRCh37
NC_000008.9:g.105548389_105548390insA	NCBI36
NG_008840.1:g.5064_5065insT
NG_008840.2:g.5064_5065insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.-66_-65insT MANE Select	ENSP00000276651.2:n.-66_-65insT
ENST00000351513.6:c.-66_-65insT	ENSP00000276651.2:n.-66_-65insT
ENST00000521573.2:c.-66_-65insT	ENSP00000430246.2:n.-66_-65insT
NM_001385.2:c.-66_-65insT	NP_001376.1:n.-66_-65insT
XM_005250818.2:c.-66_-65insT	XP_005250875.1:n.-66_-65insT
XM_006716518.2:c.-66_-65insT	XP_006716581.1:n.-66_-65insT
XM_011516903.1:c.-66_-65insT	XP_011515205.1:n.-66_-65insT
XM_011516904.1:c.-66_-65insT	XP_011515206.1:n.-66_-65insT
XR_928507.1:n.112+998_112+999insA
XM_005250818.3:c.-66_-65insT	XP_005250875.1:n.-66_-65insT
XM_006716518.3:c.-66_-65insT	XP_006716581.1:n.-66_-65insT
XM_011516903.3:c.-66_-65insT	XP_011515205.1:n.-66_-65insT
XM_017013167.2:c.-66_-65insT	XP_016868656.1:n.-66_-65insT
XM_024447087.1:c.-66_-65insT	XP_024302855.1:n.-66_-65insT
XR_001745489.1:n.89_90insT
XR_001745490.2:n.89_90insT
XR_928507.2:n.233+998_233+999insA
NM_001385.3:c.-66_-65insT MANE Select	NP_001376.1:n.-66_-65insT