Canonical Allele Identifier: CA2000234249

Gene: POU2AF1

Linked Data

• dbSNP Id: rs1860738925

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352261_111352262del , CM000673.2:g.111352261_111352262del	GRCh38
NC_000011.9:g.111222986_111222987del , CM000673.1:g.111222986_111222987del	GRCh37
NC_000011.8:g.110728196_110728197del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393067.8:c.*1999_*2000del MANE Select	ENSP00000376786.3:n.*1999_*2000del
ENST00000393067.7:c.*1999_*2000del	ENSP00000376786.3:n.*1999_*2000del
NM_006235.2:c.*1999_*2000del	NP_006226.2:n.*1999_*2000del
XM_005271593.1:c.*1999_*2000del	XP_005271650.1:n.*1999_*2000del
XM_005271594.3:c.*1999_*2000del	XP_005271651.1:n.*1999_*2000del
XM_006718859.1:c.*1999_*2000del	XP_006718922.1:n.*1999_*2000del
XM_005271593.2:c.*1999_*2000del	XP_005271650.1:n.*1999_*2000del
XM_006718860.4:c.*4154_*4155del	XP_006718923.1:n.*4154_*4155del
XM_017017932.1:c.*4154_*4155del	XP_016873421.1:n.*4154_*4155del
NM_006235.3:c.*1999_*2000del MANE Select	NP_006226.2:n.*1999_*2000del