Canonical Allele Identifier: CA615068103

Gene: TTLL5

Linked Data

• dbSNP Id: rs1453013235
• gnomAD v2: 14-76173670-GTAAT-G
• gnomAD v3: 14-75707327-GTAAT-G
• gnomAD v4: 14-75707327-GTAAT-G
• MyVariant Identifiers: chr14:g.76173671_76173674del (hg19) ; chr14:g.75707328_75707331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75707332_75707335del , CM000676.2:g.75707332_75707335del	GRCh38
NC_000014.8:g.76173675_76173678del , CM000676.1:g.76173675_76173678del	GRCh37
NC_000014.7:g.75243428_75243431del	NCBI36
NG_016974.1:g.51125_51128del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298832.14:c.655+245_655+248del MANE Select	ENSP00000298832.9:n.655+245_655+248del
ENST00000286650.9:c.655+245_655+248del	ENSP00000286650.5:n.655+245_655+248del
ENST00000298832.13:c.655+245_655+248del	ENSP00000298832.9:n.655+245_655+248del
ENST00000555422.5:n.124+245_124+248del
ENST00000556173.5:n.581+245_581+248del
ENST00000557636.5:c.655+245_655+248del	ENSP00000450713.1:n.655+245_655+248del
NM_015072.4:c.655+245_655+248del	NP_055887.3:n.655+245_655+248del
NM_015072.5:c.655+245_655+248del MANE Select	NP_055887.3:n.655+245_655+248del