Canonical Allele Identifier: CA3491198

Gene: POU4F3

Linked Data

• dbSNP Id: rs754113627
• ExAC: 5:145719771 GAGA / G
• gnomAD v2: 5-145719771-GAGA-G
• gnomAD v3: 5-146340208-GAGA-G
• gnomAD v4: 5-146340208-GAGA-G
• MyVariant Identifiers: chr5:g.145719772_145719774del (hg19) ; chr5:g.146340210_146340212del (hg38) ; chr5:g.146340209_146340211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340213_146340215del , CM000667.2:g.146340213_146340215del	GRCh38
NC_000005.9:g.145719776_145719778del , CM000667.1:g.145719776_145719778del	GRCh37
NC_000005.8:g.145699969_145699971del	NCBI36
NG_011885.1:g.6190_6192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.786_788del MANE Select	ENSP00000495718.1:p.Lys262del
ENST00000230732.4:c.786_788del	ENSP00000230732.4:p.Lys262del
NM_002700.2:c.786_788del	NP_002691.1:p.Lys262del
NM_002700.3:c.786_788del MANE Select	NP_002691.1:p.Lys262del