Canonical Allele Identifier: CA850754601

Gene: WRN

Linked Data

• dbSNP Id: rs1308065971
• gnomAD v4: 8-31173022-TTAC-T
• MyVariant Identifiers: chr8:g.31030539_31030541del (hg19) ; chr8:g.31173023_31173025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173023_31173025del , CM000670.2:g.31173023_31173025del	GRCh38
NC_000008.10:g.31030539_31030541del , CM000670.1:g.31030539_31030541del	GRCh37
NC_000008.9:g.31150081_31150083del	NCBI36
NG_008870.1:g.144762_144764del , LRG_524:g.144762_144764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4220_4222del MANE Select	ENSP00000298139.5:p.Leu1407_Pro1408delins...
ENST00000650667.1:c.*3834_*3836del	ENSP00000498593.1:n.*3834_*3836del
ENST00000651946.1:n.444_446del
ENST00000298139.5:c.4220_4222del	ENSP00000298139.5:p.Leu1407_Pro1408delins...
ENST00000521620.5:n.2853_2855del
NM_000553.4:c.4220_4222del , LRG_524t1:c.4220_4222del	NP_000544.2:p.Leu1407_Pro1408delinsSer
XM_011544639.1:c.4139_4141del	XP_011542941.1:p.Leu1380_Pro1381delinsSer...
XM_011544640.1:c.2621_2623del	XP_011542942.1:p.Leu874_Pro875delinsSer
XR_949643.1:n.88-1707_88-1705del
XR_949644.1:n.88-1707_88-1705del
XR_949645.1:n.88-1707_88-1705del
XR_949646.1:n.88-1707_88-1705del
XR_949647.1:n.701-1707_701-1705del
XR_949648.1:n.603-1707_603-1705del
NM_000553.5:c.4220_4222del	NP_000544.2:p.Leu1407_Pro1408delinsSer
XM_011544639.3:c.4139_4141del	XP_011542941.1:p.Leu1380_Pro1381delinsSer...
XM_024447265.1:c.4010_4012del	XP_024303033.1:p.Leu1337_Pro1338delinsSer...
NM_000553.6:c.4220_4222del MANE Select	NP_000544.2:p.Leu1407_Pro1408delinsSer