Canonical Allele Identifier: CA624957556

Gene: TTC19

Linked Data

• dbSNP Id: rs1322470003
• gnomAD v2: 17-15931415-GTGACAGTATAGCACCCATT-G
• gnomAD v3: 17-16028101-GTGACAGTATAGCACCCATT-G
• gnomAD v4: 17-16028101-GTGACAGTATAGCACCCATT-G
• MyVariant Identifiers: chr17:g.15931416_15931434del (hg19) ; chr17:g.16028102_16028120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028105_16028123del , CM000679.2:g.16028105_16028123del	GRCh38
NC_000017.10:g.15931419_15931437del , CM000679.1:g.15931419_15931437del	GRCh37
NC_000017.9:g.15872144_15872162del	NCBI36
NG_029806.1:g.33726_33744del
NG_047111.1:g.193627_193645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*583_*601del MANE Select	ENSP00000261647.5:n.*583_*601del
ENST00000261647.9:c.*583_*601del	ENSP00000261647.5:n.*583_*601del
ENST00000465567.1:n.2120_2138del
ENST00000470649.1:c.247+1403_247+1421del	ENSP00000465627.1:n.247+1403_247+1421del
ENST00000475723.5:c.1910_1928del
ENST00000481107.1:n.2394_2412del
NM_001271420.1:c.*583_*601del	NP_001258349.1:n.*583_*601del
NM_017775.3:c.*583_*601del	NP_060245.3:n.*583_*601del
XM_017024801.2:c.994+1403_994+1421del	XP_016880290.2:n.994+1403_994+1421del
XM_017024802.2:c.994+1403_994+1421del	XP_016880291.2:n.994+1403_994+1421del
NM_017775.4:c.*583_*601del MANE Select	NP_060245.3:n.*583_*601del
NM_001271420.2:c.*583_*601del	NP_001258349.1:n.*583_*601del