Canonical Allele Identifier: CA624957395

Gene: TTC19

Linked Data

• dbSNP Id: rs1273951947
• gnomAD v2: 17-15930856-GA-G
• gnomAD v4: 17-16027542-GA-G
• MyVariant Identifiers: chr17:g.15930857del (hg19) ; chr17:g.16027543del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16027544del , CM000679.2:g.16027544del	GRCh38
NC_000017.10:g.15930858del , CM000679.1:g.15930858del	GRCh37
NC_000017.9:g.15871583del	NCBI36
NG_029806.1:g.33165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*22del MANE Select	ENSP00000261647.5:n.*22del
ENST00000261647.9:c.*22del	ENSP00000261647.5:n.*22del
ENST00000465567.1:n.1559del
ENST00000470649.1:c.247+842del	ENSP00000465627.1:n.247+842del
ENST00000475723.5:c.1349del
ENST00000481107.1:n.1833del
NM_001271420.1:c.*22del	NP_001258349.1:n.*22del
NM_017775.3:c.*22del	NP_060245.3:n.*22del
XM_017024801.2:c.994+842del	XP_016880290.2:n.994+842del
XM_017024802.2:c.994+842del	XP_016880291.2:n.994+842del
NM_017775.4:c.*22del MANE Select	NP_060245.3:n.*22del
NM_001271420.2:c.*22del	NP_001258349.1:n.*22del