Canonical Allele Identifier: CA2499224747

Gene: TEX14

Linked Data

• ClinVar Variation Id: 1244245
• ClinVar RCV Id: RCV001648510
• dbSNP Id: rs2144367372

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58573207_58573211del , CM000679.2:g.58573207_58573211del	GRCh38
NC_000017.10:g.56650568_56650572del , CM000679.1:g.56650568_56650572del	GRCh37
NC_000017.9:g.54005567_54005571del	NCBI36
NG_047169.1:g.123870_123874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349033.10:c.3482_3486del MANE Select	ENSP00000268910.8:p.Pro1161GlnfsTer19
ENST00000240361.12:c.3620_3624del	ENSP00000240361.8:p.Pro1207GlnfsTer19
ENST00000349033.9:c.3482_3486del	ENSP00000268910.8:p.Pro1161GlnfsTer19
ENST00000389934.7:c.3602_3606del	ENSP00000374584.3:p.Pro1201GlnfsTer19
ENST00000581147.1:c.42_46del
ENST00000582740.1:c.*3320_*3324del	ENSP00000463593.1:n.*3320_*3324del
NM_001201457.1:c.3620_3624del	NP_001188386.1:p.Pro1207GlnfsTer19
NM_031272.4:c.3482_3486del	NP_112562.3:p.Pro1161GlnfsTer19
NM_198393.3:c.3602_3606del	NP_938207.2:p.Pro1201GlnfsTer19
XM_011525028.1:c.3725_3729del	XP_011523330.1:p.Pro1242GlnfsTer19
XM_011525029.1:c.3725_3729del	XP_011523331.1:p.Pro1242GlnfsTer19
XM_011525030.1:c.3725_3729del	XP_011523332.1:p.Pro1242GlnfsTer19
XM_011525031.1:c.3725_3729del	XP_011523333.1:p.Pro1242GlnfsTer19
XM_011525032.1:c.3488_3492del	XP_011523334.1:p.Pro1163GlnfsTer19
XM_011525033.1:c.2426_2430del	XP_011523335.1:p.Pro809GlnfsTer19
XM_011525029.3:c.3725_3729del	XP_011523331.1:p.Pro1242GlnfsTer19
XM_017024861.1:c.2426_2430del	XP_016880350.1:p.Pro809GlnfsTer19
NM_001201457.2:c.3620_3624del	NP_001188386.1:p.Pro1207GlnfsTer19
NM_031272.5:c.3482_3486del MANE Select	NP_112562.3:p.Pro1161GlnfsTer19
NM_198393.4:c.3602_3606del	NP_938207.2:p.Pro1201GlnfsTer19