Canonical Allele Identifier: CA2499219589

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403965_114403966delinsTG , CM000671.2:g.114403965_114403966delinsTG	GRCh38
NC_000009.11:g.117166245_117166246delinsTG , CM000671.1:g.117166245_117166246delinsTG	GRCh37
NC_000009.10:g.116206066_116206067delinsTG	NCBI36
NG_016700.1:g.106491_106492delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.692_693delinsCA	ENSP00000514396.1:p.Val231Ala
ENST00000362057.4:c.2348_2349delinsCA MANE Select	ENSP00000354623.3:p.Val783Ala
ENST00000674036.8:c.1321_1322delinsCA
ENST00000674048.1:n.2229_2230delinsCA
ENST00000265134.10:c.1199_1200delinsCA	ENSP00000265134.6:p.Val400Ala
ENST00000362057.3:c.2348_2349delinsCA	ENSP00000354623.3:p.Val783Ala
ENST00000374059.7:c.1295_1296delinsCA	ENSP00000363172.3:p.Val432Ala
NM_001083885.2:c.1199_1200delinsCA	NP_001077354.2:p.Val400Ala
NM_001173425.1:c.2345_2346delinsCA	NP_001166896.1:p.Val782Ala
NM_015404.3:c.2348_2349delinsCA	NP_056219.3:p.Val783Ala
XM_005251897.3:c.1685_1686delinsCA	XP_005251954.2:p.Val562Ala
XM_011518484.1:c.2381_2382delinsCA	XP_011516786.1:p.Val794Ala
XM_011518485.1:c.2381_2382delinsCA	XP_011516787.1:p.Val794Ala
XM_011518486.1:c.2378_2379delinsCA	XP_011516788.1:p.Val793Ala
XM_011518487.1:c.2255_2256delinsCA	XP_011516789.1:p.Val752Ala
XM_011518488.1:c.2138_2139delinsCA	XP_011516790.1:p.Val713Ala
XM_011518495.1:c.1058_1059delinsCA	XP_011516797.1:p.Val353Ala
XR_929747.1:n.3285_3286delinsCA
XR_929748.1:n.3183_3184delinsCA
NM_001346890.1:c.1295_1296delinsCA	NP_001333819.1:p.Val432Ala
XM_011518486.2:c.2378_2379delinsCA	XP_011516788.1:p.Val793Ala
XM_011518487.2:c.2255_2256delinsCA	XP_011516789.1:p.Val752Ala
XM_011518488.2:c.2138_2139delinsCA	XP_011516790.1:p.Val713Ala
XR_929747.2:n.2596_2597delinsCA
XR_929748.2:n.2494_2495delinsCA
NM_015404.4:c.2348_2349delinsCA MANE Select	NP_056219.3:p.Val783Ala
NM_001173425.2:c.2345_2346delinsCA	NP_001166896.1:p.Val782Ala
NM_001083885.3:c.1199_1200delinsCA	NP_001077354.2:p.Val400Ala