Canonical Allele Identifier: CA143778

Gene: TTC7A

Linked Data

• ClinVar Variation Id: 50608
• ClinVar RCV Id: RCV000043553 ; RCV003415786
• dbSNP Id: rs587776971
• ExAC: 2:47221651 CAAGT / C
• gnomAD v2: 2-47221651-CAAGT-C
• gnomAD v3: 2-46994512-CAAGT-C
• gnomAD v4: 2-46994512-CAAGT-C
• MyVariant Identifiers: chr2:g.47221652_47221655del (hg19) ; chr2:g.46994513_46994516del (hg38)
• PubMed: PMID:23423984 ; PMID:23830146

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46994517_46994520del , CM000664.2:g.46994517_46994520del	GRCh38
NC_000002.11:g.47221656_47221659del , CM000664.1:g.47221656_47221659del	GRCh37
NC_000002.10:g.47075160_47075163del	NCBI36
NG_034143.1:g.83389_83392del
NG_034143.2:g.83389_83392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2834+3_2834+6del
ENST00000319190.11:c.1001+3_1001+6del
ENST00000319190.9:c.1001+3_1001+6del
ENST00000394850.6:c.1001+3_1001+6del
ENST00000409245.5:c.899+3_899+6del
ENST00000409825.5:c.949+3_949+6del
ENST00000441914.5:c.843-619_843-616del
ENST00000461601.5:n.1326+3_1326+6del
ENST00000474321.6:n.485+3_485+6del
ENST00000484061.5:n.284+3_284+6del
ENST00000491786.5:n.405+3_405+6del
NM_001288951.1:c.1001+3_1001+6del
NM_001288953.1:c.899+3_899+6del
NM_001288955.1:c.-61-619_-61-616del	NP_001275884.1:n.-61-619_-61-616del
NM_020458.3:c.1001+3_1001+6del
XM_005264439.2:c.644+3_644+6del
XM_011532998.1:c.644+3_644+6del
XM_011532999.1:c.1001+3_1001+6del
XM_011533000.1:c.221+3_221+6del
XR_939696.1:n.1306+3_1306+6del
XM_005264439.4:c.644+3_644+6del
XM_011532998.3:c.644+3_644+6del
XM_011532999.2:c.1001+3_1001+6del
XM_011533000.3:c.221+3_221+6del
XM_017004524.1:c.1001+3_1001+6del
XM_017004525.1:c.833+3_833+6del
XM_017004526.1:c.1001+3_1001+6del
XM_017004529.1:c.1001+3_1001+6del
XR_001738853.2:n.1313+3_1313+6del
XR_001738854.1:n.1312+3_1312+6del
NM_020458.4:c.1001+3_1001+6del
NM_001288951.2:c.1001+3_1001+6del
NM_001288953.2:c.899+3_899+6del
NM_001288955.2:c.-61-619_-61-616del	NP_001275884.1:n.-61-619_-61-616del