Canonical Allele Identifier: CA8407618

Gene: TTC19

Linked Data

• dbSNP Id: rs769929030
• ExAC: 17:15930894 CTG / C
• gnomAD v2: 17-15930894-CTG-C
• gnomAD v4: 17-16027580-CTG-C
• MyVariant Identifiers: chr17:g.15930895_15930896del (hg19) ; chr17:g.16027581_16027582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027582_16027583del , CM000679.2:g.16027582_16027583del	GRCh38
NC_000017.10:g.15930896_15930897del , CM000679.1:g.15930896_15930897del	GRCh37
NC_000017.9:g.15871621_15871622del	NCBI36
NG_029806.1:g.33203_33204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*60_*61del MANE Select	ENSP00000261647.5:n.*60_*61del
ENST00000261647.9:c.*60_*61del	ENSP00000261647.5:n.*60_*61del
ENST00000465567.1:n.1597_1598del
ENST00000470649.1:c.247+880_247+881del	ENSP00000465627.1:n.247+880_247+881del
ENST00000475723.5:c.1387_1388del
ENST00000481107.1:n.1871_1872del
NM_001271420.1:c.*60_*61del	NP_001258349.1:n.*60_*61del
NM_017775.3:c.*60_*61del	NP_060245.3:n.*60_*61del
XM_017024801.2:c.994+880_994+881del	XP_016880290.2:n.994+880_994+881del
XM_017024802.2:c.994+880_994+881del	XP_016880291.2:n.994+880_994+881del
NM_017775.4:c.*60_*61del MANE Select	NP_060245.3:n.*60_*61del
NM_001271420.2:c.*60_*61del	NP_001258349.1:n.*60_*61del