Canonical Allele Identifier: CA2691372990

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407977-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407980del , CM000671.2:g.114407980del	GRCh38
NC_000009.11:g.117170260del , CM000671.1:g.117170260del	GRCh37
NC_000009.10:g.116210081del	NCBI36
NG_016700.1:g.102479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1667del MANE Select	ENSP00000354623.3:p.Gly556AlafsTer?
ENST00000673811.1:n.2391del
ENST00000674036.8:c.640del
ENST00000674048.1:n.1548del
ENST00000265134.10:c.518del	ENSP00000265134.6:p.Gly173AlafsTer?
ENST00000362057.3:c.1667del	ENSP00000354623.3:p.Gly556AlafsTer?
ENST00000374059.7:c.614del	ENSP00000363172.3:p.Gly205AlafsTer?
NM_001083885.2:c.518del	NP_001077354.2:p.Gly173AlafsTer?
NM_001173425.1:c.1667del	NP_001166896.1:p.Gly556AlafsTer?
NM_015404.3:c.1667del	NP_056219.3:p.Gly556AlafsTer?
XM_005251897.3:c.1004del	XP_005251954.2:p.Gly335AlafsTer?
XM_011518484.1:c.1700del	XP_011516786.1:p.Gly567AlafsTer?
XM_011518485.1:c.1700del	XP_011516787.1:p.Gly567AlafsTer?
XM_011518486.1:c.1700del	XP_011516788.1:p.Gly567AlafsTer?
XM_011518487.1:c.1574del	XP_011516789.1:p.Gly525AlafsTer?
XM_011518488.1:c.1457del	XP_011516790.1:p.Gly486AlafsTer?
XM_011518492.1:c.*52del	XP_011516794.1:n.*52del
XM_011518495.1:c.377del	XP_011516797.1:p.Gly126AlafsTer?
XR_929747.1:n.2604del
XR_929748.1:n.2502del
XR_929750.1:n.2603del
XR_929751.1:n.2510del
XR_929757.1:n.2477del
NM_001346890.1:c.614del	NP_001333819.1:p.Gly205AlafsTer?
XM_011518486.2:c.1700del	XP_011516788.1:p.Gly567AlafsTer?
XM_011518487.2:c.1574del	XP_011516789.1:p.Gly525AlafsTer?
XM_011518488.2:c.1457del	XP_011516790.1:p.Gly486AlafsTer?
XM_011518492.2:c.*52del	XP_011516794.1:n.*52del
XR_929747.2:n.1915del
XR_929748.2:n.1813del
XR_929750.3:n.1914del
XR_929757.2:n.1788del
NM_015404.4:c.1667del MANE Select	NP_056219.3:p.Gly556AlafsTer?
NM_001173425.2:c.1667del	NP_001166896.1:p.Gly556AlafsTer?
NM_001083885.3:c.518del	NP_001077354.2:p.Gly173AlafsTer?