Canonical Allele Identifier: CA2636259720

Gene: TTC19

Linked Data

• gnomAD v4: 17-16000048-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16000051del , CM000679.2:g.16000051del	GRCh38
NC_000017.10:g.15903365del , CM000679.1:g.15903365del	GRCh37
NC_000017.9:g.15844090del	NCBI36
NG_029806.1:g.5672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.184+19del MANE Select	ENSP00000261647.5:n.184+19del
ENST00000261647.9:c.184+19del	ENSP00000261647.5:n.184+19del
ENST00000466729.5:c.249+19del
ENST00000470399.1:c.199+19del	ENSP00000465082.1:n.199+19del
ENST00000475723.5:c.231+19del
ENST00000497842.6:n.228del
ENST00000583704.1:n.209+19del
NM_001271420.1:c.-275+19del	NP_001258349.1:n.-275+19del
NM_017775.3:c.184+19del	NP_060245.3:n.184+19del
XM_011523950.1:c.184+19del	XP_011522252.1:n.184+19del
XM_017024801.2:c.184+19del	XP_016880290.2:n.184+19del
XM_017024802.2:c.184+19del	XP_016880291.2:n.184+19del
XM_024450814.1:c.184+19del	XP_024306582.1:n.184+19del
NM_017775.4:c.184+19del MANE Select	NP_060245.3:n.184+19del
NM_001271420.2:c.-275+19del	NP_001258349.1:n.-275+19del