Canonical Allele Identifier: CA2691372601

Gene: WHRN

Linked Data

• gnomAD v4: 9-114406423-A-AGGGAAAGCAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406423_114406424insGGGAAAGCAAGG , CM000671.2:g.114406423_114406424insGGGAAAGCAAGG	GRCh38
NC_000009.11:g.117168703_117168704insGGGAAAGCAAGG , CM000671.1:g.117168703_117168704insGGGAAAGCAAGG	GRCh37
NC_000009.10:g.116208524_116208525insGGGAAAGCAAGG	NCBI36
NG_016700.1:g.104033_104034insCCTTGCTTTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.511_512insCCTTGCTTTCCC	ENSP00000514396.1:p.Met171delinsThrLeuLeu...
ENST00000362057.4:c.2167_2168insCCTTGCTTTCCC MANE Select	ENSP00000354623.3:p.Met723delinsThrLeuLeu...
ENST00000674036.8:c.1140_1141insCCTTGCTTTCCC
ENST00000674048.1:n.2048_2049insCCTTGCTTTCCC
ENST00000265134.10:c.1018_1019insCCTTGCTTTCCC	ENSP00000265134.6:p.Met340delinsThrLeuLeu...
ENST00000362057.3:c.2167_2168insCCTTGCTTTCCC	ENSP00000354623.3:p.Met723delinsThrLeuLeu...
ENST00000374059.7:c.1114_1115insCCTTGCTTTCCC	ENSP00000363172.3:p.Met372delinsThrLeuLeu...
NM_001083885.2:c.1018_1019insCCTTGCTTTCCC	NP_001077354.2:p.Met340delinsThrLeuLeuSer...
NM_001173425.1:c.2167_2168insCCTTGCTTTCCC	NP_001166896.1:p.Met723delinsThrLeuLeuSer...
NM_015404.3:c.2167_2168insCCTTGCTTTCCC	NP_056219.3:p.Met723delinsThrLeuLeuSerLeu...
XM_005251897.3:c.1504_1505insCCTTGCTTTCCC	XP_005251954.2:p.Met502delinsThrLeuLeuSer...
XM_011518484.1:c.2200_2201insCCTTGCTTTCCC	XP_011516786.1:p.Met734delinsThrLeuLeuSer...
XM_011518485.1:c.2200_2201insCCTTGCTTTCCC	XP_011516787.1:p.Met734delinsThrLeuLeuSer...
XM_011518486.1:c.2200_2201insCCTTGCTTTCCC	XP_011516788.1:p.Met734delinsThrLeuLeuSer...
XM_011518487.1:c.2074_2075insCCTTGCTTTCCC	XP_011516789.1:p.Met692delinsThrLeuLeuSer...
XM_011518488.1:c.1957_1958insCCTTGCTTTCCC	XP_011516790.1:p.Met653delinsThrLeuLeuSer...
XM_011518495.1:c.877_878insCCTTGCTTTCCC	XP_011516797.1:p.Met293delinsThrLeuLeuSer...
XR_929747.1:n.3104_3105insCCTTGCTTTCCC
XR_929748.1:n.3002_3003insCCTTGCTTTCCC
NM_001346890.1:c.1114_1115insCCTTGCTTTCCC	NP_001333819.1:p.Met372delinsThrLeuLeuSer...
XM_011518486.2:c.2200_2201insCCTTGCTTTCCC	XP_011516788.1:p.Met734delinsThrLeuLeuSer...
XM_011518487.2:c.2074_2075insCCTTGCTTTCCC	XP_011516789.1:p.Met692delinsThrLeuLeuSer...
XM_011518488.2:c.1957_1958insCCTTGCTTTCCC	XP_011516790.1:p.Met653delinsThrLeuLeuSer...
XR_929747.2:n.2415_2416insCCTTGCTTTCCC
XR_929748.2:n.2313_2314insCCTTGCTTTCCC
NM_015404.4:c.2167_2168insCCTTGCTTTCCC MANE Select	NP_056219.3:p.Met723delinsThrLeuLeuSerLeu...
NM_001173425.2:c.2167_2168insCCTTGCTTTCCC	NP_001166896.1:p.Met723delinsThrLeuLeuSer...
NM_001083885.3:c.1018_1019insCCTTGCTTTCCC	NP_001077354.2:p.Met340delinsThrLeuLeuSer...