Canonical Allele Identifier: CA624957572

Gene: TTC19

Linked Data

• dbSNP Id: rs1454641633
• gnomAD v2: 17-15931531-TTGTC-T
• gnomAD v4: 17-16028217-TTGTC-T
• MyVariant Identifiers: chr17:g.15931532_15931535del (hg19) ; chr17:g.16028218_16028221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028221_16028224del , CM000679.2:g.16028221_16028224del	GRCh38
NC_000017.10:g.15931535_15931538del , CM000679.1:g.15931535_15931538del	GRCh37
NC_000017.9:g.15872260_15872263del	NCBI36
NG_029806.1:g.33842_33845del
NG_047111.1:g.193526_193529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*699_*702del MANE Select	ENSP00000261647.5:n.*699_*702del
ENST00000261647.9:c.*699_*702del	ENSP00000261647.5:n.*699_*702del
ENST00000465567.1:n.2236_2239del
ENST00000470649.1:c.247+1519_247+1522del	ENSP00000465627.1:n.247+1519_247+1522del
ENST00000475723.5:c.2026_2029del
ENST00000481107.1:n.2510_2513del
NM_001271420.1:c.*699_*702del	NP_001258349.1:n.*699_*702del
NM_017775.3:c.*699_*702del	NP_060245.3:n.*699_*702del
XM_017024801.2:c.994+1519_994+1522del	XP_016880290.2:n.994+1519_994+1522del
XM_017024802.2:c.994+1519_994+1522del	XP_016880291.2:n.994+1519_994+1522del
NM_017775.4:c.*699_*702del MANE Select	NP_060245.3:n.*699_*702del
NM_001271420.2:c.*699_*702del	NP_001258349.1:n.*699_*702del