Canonical Allele Identifier: CA708599791

Gene: TTLL5

Linked Data

• dbSNP Id: rs1245934082
• gnomAD v3: 14-75707346-ATGAC-A
• gnomAD v4: 14-75707346-ATGAC-A
• MyVariant Identifiers: chr14:g.76173690_76173693del (hg19) ; chr14:g.75707347_75707350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75707347_75707350del , CM000676.2:g.75707347_75707350del	GRCh38
NC_000014.8:g.76173690_76173693del , CM000676.1:g.76173690_76173693del	GRCh37
NC_000014.7:g.75243443_75243446del	NCBI36
NG_016974.1:g.51140_51143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298832.14:c.655+260_655+263del MANE Select	ENSP00000298832.9:n.655+260_655+263del
ENST00000286650.9:c.655+260_655+263del	ENSP00000286650.5:n.655+260_655+263del
ENST00000298832.13:c.655+260_655+263del	ENSP00000298832.9:n.655+260_655+263del
ENST00000555422.5:n.124+260_124+263del
ENST00000556173.5:n.581+260_581+263del
ENST00000557636.5:c.655+260_655+263del	ENSP00000450713.1:n.655+260_655+263del
NM_015072.4:c.655+260_655+263del	NP_055887.3:n.655+260_655+263del
NM_015072.5:c.655+260_655+263del MANE Select	NP_055887.3:n.655+260_655+263del