Canonical Allele Identifier: CA624957784

Gene: TTC19

Linked Data

• dbSNP Id: rs1333725642
• gnomAD v2: 17-15932173-AAT-A
• gnomAD v3: 17-16028859-AAT-A
• gnomAD v4: 17-16028859-AAT-A
• MyVariant Identifiers: chr17:g.15932174_15932175del (hg19) ; chr17:g.16028860_16028861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028861_16028862del , CM000679.2:g.16028861_16028862del	GRCh38
NC_000017.10:g.15932175_15932176del , CM000679.1:g.15932175_15932176del	GRCh37
NC_000017.9:g.15872900_15872901del	NCBI36
NG_029806.1:g.34482_34483del
NG_047111.1:g.192886_192887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1339_*1340del MANE Select	ENSP00000261647.5:n.*1339_*1340del
ENST00000261647.9:c.*1339_*1340del	ENSP00000261647.5:n.*1339_*1340del
ENST00000470649.1:c.247+2159_247+2160del	ENSP00000465627.1:n.247+2159_247+2160del
NM_001271420.1:c.*1339_*1340del	NP_001258349.1:n.*1339_*1340del
NM_017775.3:c.*1339_*1340del	NP_060245.3:n.*1339_*1340del
XM_017024801.2:c.994+2159_994+2160del	XP_016880290.2:n.994+2159_994+2160del
XM_017024802.2:c.994+2159_994+2160del	XP_016880291.2:n.994+2159_994+2160del
NM_017775.4:c.*1339_*1340del MANE Select	NP_060245.3:n.*1339_*1340del
NM_001271420.2:c.*1339_*1340del	NP_001258349.1:n.*1339_*1340del