Canonical Allele Identifier: CA602580328

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1191002266
• gnomAD v2: 11-121032900-AGGGCTTCTTCCAGCCCTGCTAT-A
• gnomAD v4: 11-121162191-AGGGCTTCTTCCAGCCCTGCTAT-A
• MyVariant Identifiers: chr11:g.121032901_121032922del (hg19) ; chr11:g.121162192_121162213del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162200_121162221del , CM000673.2:g.121162200_121162221del	GRCh38
NC_000011.9:g.121032909_121032930del , CM000673.1:g.121032909_121032930del	GRCh37
NC_000011.8:g.120538119_120538140del	NCBI36
NG_011633.1:g.64535_64556del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.5102_5123del (TECTA) MANE Select	ENSP00000376543.1:p.Phe1701SerfsTer?
ENST00000642222.1:c.5087_5108del (TECTA)	ENSP00000493855.1:p.Phe1696SerfsTer?
ENST00000645008.1:c.2394_2415del (TECTA)
ENST00000646278.1:n.1023_1044del (TECTA)
ENST00000264037.2:c.5102_5123del (TECTA)	ENSP00000264037.2:p.Phe1701SerfsTer?
ENST00000392793.5:c.5102_5123del (TECTA)	ENSP00000376543.1:p.Phe1701SerfsTer?
NM_005422.2:c.5102_5123del (TECTA)	NP_005413.2:p.Phe1701SerfsTer?
NM_001378761.1:c.6044_6065del (TBCEL-TECTA)	NP_001365690.1:p.Phe2015SerfsTer?
NM_005422.4:c.5102_5123del (TECTA) MANE Select	NP_005413.2:p.Phe1701SerfsTer?