Canonical Allele Identifier: CA1122573687

Gene: TEK

Linked Data

• dbSNP Id: rs1824452112
• gnomAD v3: 9-27183099-AAG-A
• gnomAD v4: 9-27183099-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183101_27183102del , CM000671.2:g.27183101_27183102del	GRCh38
NC_000009.11:g.27183099_27183100del , CM000671.1:g.27183099_27183100del	GRCh37
NC_000009.10:g.27173099_27173100del	NCBI36
NG_011828.1:g.78953_78954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1031-358_1031-357del MANE Select	ENSP00000369375.4:n.1031-358_1031-357del
ENST00000380036.8:c.1031-358_1031-357del	ENSP00000369375.4:n.1031-358_1031-357del
ENST00000406359.8:c.902-358_902-357del	ENSP00000383977.4:n.902-358_902-357del
ENST00000519080.1:c.461-358_461-357del	ENSP00000428337.1:n.461-358_461-357del
ENST00000519097.5:c.590-358_590-357del	ENSP00000430686.1:n.590-358_590-357del
ENST00000615002.4:c.902-358_902-357del	ENSP00000480251.1:n.902-358_902-357del
NM_000459.4:c.1031-358_1031-357del	NP_000450.2:n.1031-358_1031-357del
NM_001290077.1:c.902-358_902-357del	NP_001277006.1:n.902-358_902-357del
NM_001290078.1:c.590-358_590-357del	NP_001277007.1:n.590-358_590-357del
XM_005251561.1:c.1031-358_1031-357del	XP_005251618.1:n.1031-358_1031-357del
XM_005251563.1:c.902-358_902-357del	XP_005251620.1:n.902-358_902-357del
XM_005251561.2:c.1031-358_1031-357del	XP_005251618.1:n.1031-358_1031-357del
XM_005251563.2:c.902-358_902-357del	XP_005251620.1:n.902-358_902-357del
NM_000459.5:c.1031-358_1031-357del MANE Select	NP_000450.3:n.1031-358_1031-357del
NM_001375475.1:c.1031-358_1031-357del	NP_001362404.1:n.1031-358_1031-357del
NM_001375476.1:c.902-358_902-357del	NP_001362405.1:n.902-358_902-357del