Canonical Allele Identifier: CA601723473

Gene: POU2AF1

Linked Data

• dbSNP Id: rs1415327314
• gnomAD v2: 11-111223105-CT-C
• gnomAD v3: 11-111352380-CT-C
• gnomAD v4: 11-111352380-CT-C
• MyVariant Identifiers: chr11:g.111223106del (hg19) ; chr11:g.111352381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352382del , CM000673.2:g.111352382del	GRCh38
NC_000011.9:g.111223107del , CM000673.1:g.111223107del	GRCh37
NC_000011.8:g.110728317del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393067.8:c.*1880del MANE Select	ENSP00000376786.3:n.*1880del
ENST00000393067.7:c.*1880del	ENSP00000376786.3:n.*1880del
NM_006235.2:c.*1880del	NP_006226.2:n.*1880del
XM_005271593.1:c.*1880del	XP_005271650.1:n.*1880del
XM_005271594.3:c.*1880del	XP_005271651.1:n.*1880del
XM_006718859.1:c.*1880del	XP_006718922.1:n.*1880del
XM_005271593.2:c.*1880del	XP_005271650.1:n.*1880del
XM_006718860.4:c.*4035del	XP_006718923.1:n.*4035del
XM_017017932.1:c.*4035del	XP_016873421.1:n.*4035del
NM_006235.3:c.*1880del MANE Select	NP_006226.2:n.*1880del