Canonical Allele Identifier: CA4705045

Gene: WRN

Linked Data

• dbSNP Id: rs771957553
• ExAC: 8:31004550 TTTC / T
• gnomAD v2: 8-31004550-TTTC-T
• gnomAD v4: 8-31147034-TTTC-T
• MyVariant Identifiers: chr8:g.31004551_31004553del (hg19) ; chr8:g.31147035_31147037del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147037_31147039del , CM000670.2:g.31147037_31147039del	GRCh38
NC_000008.10:g.31004553_31004555del , CM000670.1:g.31004553_31004555del	GRCh37
NC_000008.9:g.31124095_31124097del	NCBI36
NG_008870.1:g.118776_118778del , LRG_524:g.118776_118778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3384-16_3384-14del MANE Select	ENSP00000298139.5:n.3384-16_3384-14del
ENST00000650667.1:c.*2998-16_*2998-14del	ENSP00000498593.1:n.*2998-16_*2998-14del
ENST00000298139.5:c.3384-16_3384-14del	ENSP00000298139.5:n.3384-16_3384-14del
ENST00000521620.5:n.2017-16_2017-14del
NM_000553.4:c.3384-16_3384-14del , LRG_524t1:c.3384-16_3384-14del	NP_000544.2:n.3384-16_3384-14del
XM_011544639.1:c.3303-16_3303-14del	XP_011542941.1:n.3303-16_3303-14del
XM_011544640.1:c.1785-16_1785-14del	XP_011542942.1:n.1785-16_1785-14del
XR_949470.1:n.3657-16_3657-14del
XR_949471.1:n.3657-16_3657-14del
XR_949472.1:n.3657-16_3657-14del
XR_949643.1:n.614+1471_614+1473del
NM_000553.5:c.3384-16_3384-14del	NP_000544.2:n.3384-16_3384-14del
XM_011544639.3:c.3303-16_3303-14del	XP_011542941.1:n.3303-16_3303-14del
XM_024447265.1:c.3174-16_3174-14del	XP_024303033.1:n.3174-16_3174-14del
XR_949470.3:n.3685-16_3685-14del
XR_949471.3:n.3685-16_3685-14del
XR_949472.3:n.3685-16_3685-14del
NM_000553.6:c.3384-16_3384-14del MANE Select	NP_000544.2:n.3384-16_3384-14del