Canonical Allele Identifier: CA1030288

Gene: VTCN1

Linked Data

• dbSNP Id: rs758737345
• ExAC: 1:117690253 T / TTTTGTG
• gnomAD v2: 1-117690253-T-TTTTGTG
• gnomAD v3: 1-117147631-T-TTTTGTG
• gnomAD v4: 1-117147631-T-TTTTGTG
• MyVariant Identifiers: chr1:g.117690253_117690254insTTTGTG (hg19) ; chr1:g.117147631_117147632insTTTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147631_117147632insTTTGTG , CM000663.2:g.117147631_117147632insTTTGTG	GRCh38
NC_000001.10:g.117690253_117690254insTTTGTG , CM000663.1:g.117690253_117690254insTTTGTG	GRCh37
NC_000001.9:g.117491776_117491777insTTTGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369458.8:c.*26_*27insCACAAA MANE Select	ENSP00000358470.3:n.*26_*27insCACAAA
ENST00000328189.7:c.*26_*27insCACAAA	ENSP00000328168.3:n.*26_*27insCACAAA
ENST00000359008.8:c.*26_*27insCACAAA	ENSP00000351899.4:n.*26_*27insCACAAA
ENST00000369458.7:c.*26_*27insCACAAA	ENSP00000358470.3:n.*26_*27insCACAAA
ENST00000539893.5:c.*26_*27insCACAAA	ENSP00000444724.1:n.*26_*27insCACAAA
NM_001253849.1:c.*26_*27insCACAAA	NP_001240778.1:n.*26_*27insCACAAA
NM_001253850.1:c.*26_*27insCACAAA	NP_001240779.1:n.*26_*27insCACAAA
NM_024626.3:c.*26_*27insCACAAA	NP_078902.2:n.*26_*27insCACAAA
NR_045603.1:n.1070_1071insCACAAA
NR_045604.1:n.774_775insCACAAA
XM_011542143.1:c.*26_*27insCACAAA	XP_011540445.1:n.*26_*27insCACAAA
XM_011542144.1:c.*26_*27insCACAAA	XP_011540446.1:n.*26_*27insCACAAA
XM_011542145.1:c.*26_*27insCACAAA	XP_011540447.1:n.*26_*27insCACAAA
XM_011542143.2:c.*26_*27insCACAAA	XP_011540445.2:n.*26_*27insCACAAA
XM_017002335.2:c.*26_*27insCACAAA	XP_016857824.1:n.*26_*27insCACAAA
NM_024626.4:c.*26_*27insCACAAA MANE Select	NP_078902.2:n.*26_*27insCACAAA
NR_045603.2:n.1037_1038insCACAAA
NR_045604.2:n.741_742insCACAAA
NM_001253849.2:c.*26_*27insCACAAA	NP_001240778.1:n.*26_*27insCACAAA
NM_001253850.2:c.*26_*27insCACAAA	NP_001240779.1:n.*26_*27insCACAAA