Canonical Allele Identifier: CA2939723

Gene: TMPRSS11A

Linked Data

• dbSNP Id: rs761922749
• ExAC: 4:68797748 T / TA
• gnomAD v2: 4-68797748-T-TA
• MyVariant Identifiers: chr4:g.68797748_68797749insA (hg19) ; chr4:g.67932030_67932031insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67932030_67932031insA , CM000666.2:g.67932030_67932031insA	GRCh38
NC_000004.11:g.68797748_68797749insA , CM000666.1:g.68797748_68797749insA	GRCh37
NC_000004.10:g.68480343_68480344insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508048.6:c.282_283insT MANE Select	ENSP00000426911.2:p.Lys95Ter
ENST00000334830.11:c.291_292insT	ENSP00000334611.7:p.Lys98Ter
ENST00000396188.3:c.282_283insT	ENSP00000379491.3:p.Lys95Ter
ENST00000508048.5:c.282_283insT	ENSP00000426911.2:p.Lys95Ter
ENST00000513536.5:c.222_223insT	ENSP00000427621.1:p.Lys75Ter
NM_001114387.1:c.282_283insT	NP_001107859.1:p.Lys95Ter
NM_182606.3:c.291_292insT	NP_872412.3:p.Lys98Ter
NM_001114387.2:c.282_283insT MANE Select	NP_001107859.1:p.Lys95Ter
NM_182606.4:c.291_292insT	NP_872412.3:p.Lys98Ter