Canonical Allele Identifier: CA726463942

Gene: TTC19

Linked Data

• dbSNP Id: rs1185228125
• gnomAD v4: 17-16028241-ACTTC-A
• MyVariant Identifiers: chr17:g.15931556_15931559del (hg19) ; chr17:g.16028242_16028245del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028245_16028248del , CM000679.2:g.16028245_16028248del	GRCh38
NC_000017.10:g.15931559_15931562del , CM000679.1:g.15931559_15931562del	GRCh37
NC_000017.9:g.15872284_15872287del	NCBI36
NG_029806.1:g.33866_33869del
NG_047111.1:g.193502_193505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*723_*726del MANE Select	ENSP00000261647.5:n.*723_*726del
ENST00000261647.9:c.*723_*726del	ENSP00000261647.5:n.*723_*726del
ENST00000465567.1:n.2260_2263del
ENST00000470649.1:c.247+1543_247+1546del	ENSP00000465627.1:n.247+1543_247+1546del
ENST00000475723.5:c.2050_2053del
ENST00000481107.1:n.2534_2537del
NM_001271420.1:c.*723_*726del	NP_001258349.1:n.*723_*726del
NM_017775.3:c.*723_*726del	NP_060245.3:n.*723_*726del
XM_017024801.2:c.994+1543_994+1546del	XP_016880290.2:n.994+1543_994+1546del
XM_017024802.2:c.994+1543_994+1546del	XP_016880291.2:n.994+1543_994+1546del
NM_017775.4:c.*723_*726del MANE Select	NP_060245.3:n.*723_*726del
NM_001271420.2:c.*723_*726del	NP_001258349.1:n.*723_*726del