Canonical Allele Identifier: CA2688213213

Gene: DPYS

Linked Data

• gnomAD v4: 8-104379599-TATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.104379604_104379606del , CM000670.2:g.104379604_104379606del	GRCh38
NC_000008.10:g.105391832_105391834del , CM000670.1:g.105391832_105391834del	GRCh37
NC_000008.9:g.105461008_105461010del	NCBI36
NG_008840.1:g.92448_92450del
NG_008840.2:g.92448_92450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351513.7:c.*256_*258del MANE Select	ENSP00000276651.2:n.*256_*258del
ENST00000351513.6:c.*256_*258del	ENSP00000276651.2:n.*256_*258del
ENST00000520806.1:n.470_472del
ENST00000521601.1:n.328+1582_328+1584del
ENST00000533874.1:c.315_317del
NM_001385.2:c.*256_*258del	NP_001376.1:n.*256_*258del
XM_005250818.2:c.*256_*258del	XP_005250875.1:n.*256_*258del
XM_006716518.2:c.*256_*258del	XP_006716581.1:n.*256_*258del
XM_005250818.3:c.*256_*258del	XP_005250875.1:n.*256_*258del
XM_006716518.3:c.*256_*258del	XP_006716581.1:n.*256_*258del
XM_024447087.1:c.*793_*795del	XP_024302855.1:n.*793_*795del
XR_001745489.1:n.2415_2417del
XR_001745490.2:n.2307_2309del
NM_001385.3:c.*256_*258del MANE Select	NP_001376.1:n.*256_*258del