Canonical Allele Identifier: CA2575008416
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137515_121137522del , CM000673.2:g.121137515_121137522del GRCh38
NC_000011.9:g.121008224_121008231del , CM000673.1:g.121008224_121008231del GRCh37
NC_000011.8:g.120513434_120513441del NCBI36
NG_011633.1:g.39850_39857del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3036_3043del (TECTA) MANE Select ENSP00000376543.1:p.Ser1012ArgfsTer6
ENST00000642222.1:c.3036_3043del (TECTA) ENSP00000493855.1:p.Ser1012ArgfsTer6
ENST00000645008.1:c.343_350del (TECTA)
ENST00000264037.2:c.3036_3043del (TECTA) ENSP00000264037.2:p.Ser1012ArgfsTer6
ENST00000392793.5:c.3036_3043del (TECTA) ENSP00000376543.1:p.Ser1012ArgfsTer6
NM_005422.2:c.3036_3043del (TECTA) NP_005413.2:p.Ser1012ArgfsTer6
NM_001378761.1:c.3993_4000del (TBCEL-TECTA) NP_001365690.1:p.Ser1331ArgfsTer6
NM_005422.4:c.3036_3043del (TECTA) MANE Select NP_005413.2:p.Ser1012ArgfsTer6