Canonical Allele Identifier: CA658795453

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 538743
• ClinVar RCV Id: RCV000648202
• dbSNP Id: rs1553163206
• MyVariant Identifiers: chr1:g.46658058del (hg19) ; chr1:g.46192386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192387del , CM000663.2:g.46192387del	GRCh38
NC_000001.10:g.46658059del , CM000663.1:g.46658059del	GRCh37
NC_000001.9:g.46430646del	NCBI36
NG_009205.2:g.32920del
NG_009205.3:g.32920del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1335del (POMGNT1)	ENSP00000379698.4:p.Met446CysfsTer?
ENST00000477114.2:n.1897del (POMGNT1)
ENST00000497439.6:n.1507del (POMGNT1)
ENST00000684817.1:n.1695del (POMGNT1)
ENST00000684898.1:n.1897del (POMGNT1)
ENST00000685230.1:c.*645del (POMGNT1)	ENSP00000510305.1:n.*645del
ENST00000685275.1:n.1882del (POMGNT1)
ENST00000685444.1:c.1236del (POMGNT1)	ENSP00000510762.1:p.Met413CysfsTer?
ENST00000685704.1:n.1897del (POMGNT1)
ENST00000685775.1:n.2862del (POMGNT1)
ENST00000685833.1:n.2213del (POMGNT1)
ENST00000686252.1:n.2409del (POMGNT1)
ENST00000686379.1:c.*459del (POMGNT1)	ENSP00000508913.1:n.*459del
ENST00000686724.1:n.1507del (POMGNT1)
ENST00000686737.1:c.1335del (POMGNT1)	ENSP00000508736.1:p.Met446CysfsTer?
ENST00000687112.1:n.2201del (POMGNT1)
ENST00000687149.1:c.1335del (POMGNT1)	ENSP00000509745.1:p.Met446CysfsTer?
ENST00000687197.1:c.*275del (POMGNT1)	ENSP00000510749.1:n.*275del
ENST00000687235.1:n.1897del (POMGNT1)
ENST00000687613.1:n.2085del (POMGNT1)
ENST00000687683.1:c.1335del (POMGNT1)	ENSP00000508522.1:p.Met446CysfsTer?
ENST00000688032.1:n.1897del (POMGNT1)
ENST00000688596.1:n.1986del (POMGNT1)
ENST00000688608.1:c.1236del (POMGNT1)	ENSP00000508890.1:p.Met413CysfsTer?
ENST00000688919.1:n.2531del (POMGNT1)
ENST00000689031.1:n.1897del (POMGNT1)
ENST00000689717.1:n.1507del (POMGNT1)
ENST00000689756.1:c.*967del (POMGNT1)	ENSP00000509023.1:n.*967del
ENST00000690377.1:n.1682del (POMGNT1)
ENST00000690678.1:c.1335del (POMGNT1)	ENSP00000508703.1:p.Met446CysfsTer?
ENST00000691209.1:c.*275del (POMGNT1)	ENSP00000510112.1:n.*275del
ENST00000691243.1:c.1335del (POMGNT1)	ENSP00000510654.1:p.Met446CysfsTer?
ENST00000692169.1:n.1484del (POMGNT1)
ENST00000692202.1:n.1910del (POMGNT1)
ENST00000692322.1:c.*1187del (POMGNT1)	ENSP00000509017.1:n.*1187del
ENST00000692369.1:c.1335del (POMGNT1)	ENSP00000508453.1:p.Met446CysfsTer?
ENST00000692599.1:n.1897del (POMGNT1)
ENST00000692635.1:c.*275del (POMGNT1)	ENSP00000508425.1:n.*275del
ENST00000693168.1:n.1596del (POMGNT1)
ENST00000693218.1:c.1335del (POMGNT1)	ENSP00000510577.1:p.Met446CysfsTer?
ENST00000693223.1:n.2283del (POMGNT1)
ENST00000693365.1:n.3969del (POMGNT1)
ENST00000371984.8:c.1335del (POMGNT1) MANE Select	ENSP00000361052.3:p.Met446CysfsTer?
ENST00000371984.7:c.1335del (POMGNT1)	ENSP00000361052.3:p.Met446CysfsTer?
ENST00000371992.1:c.1335del (POMGNT1)	ENSP00000361060.1:p.Met446CysfsTer?
ENST00000396420.7:c.*1004del (POMGNT1)	ENSP00000379698.3:n.*1004del
ENST00000485714.1:n.721del (POMGNT1)
NM_001243766.1:c.1335del (POMGNT1)	NP_001230695.1:p.Met446CysfsTer?
NM_001290129.1:c.1269del (POMGNT1)	NP_001277058.1:p.Met424CysfsTer?
NM_001290130.1:c.906del (POMGNT1)	NP_001277059.1:p.Met303CysfsTer?
NM_017739.3:c.1335del (POMGNT1)	NP_060209.3:p.Met446CysfsTer?
XM_005271010.1:c.1335del (POMGNT1)	XP_005271067.1:p.Met446CysfsTer?
XM_006710755.1:c.1335del (POMGNT1)	XP_006710818.1:p.Met446CysfsTer?
XM_006710756.1:c.1335del (POMGNT1)	XP_006710819.1:p.Met446CysfsTer?
XM_011540460.1:c.679-3815del (TSPAN1)	XP_011538762.1:n.679-3815del
XM_011540461.1:c.634-3815del (TSPAN1)	XP_011538763.1:n.634-3815del
XM_011541759.1:c.1269del (POMGNT1)	XP_011540061.1:p.Met424CysfsTer?
XM_011541760.1:c.1269del (POMGNT1)	XP_011540062.1:p.Met424CysfsTer?
XM_011541761.1:c.243del (POMGNT1)	XP_011540063.1:p.Met82CysfsTer?
XR_946706.1:n.1495del (POMGNT1)
XM_011540460.3:c.679-3815del (TSPAN1)	XP_011538762.1:n.679-3815del
XM_011541760.3:c.1269del (POMGNT1)	XP_011540062.1:p.Met424CysfsTer?
XM_017001690.1:c.1335del (POMGNT1)	XP_016857179.1:p.Met446CysfsTer?
NM_001243766.2:c.1335del (POMGNT1)	NP_001230695.2:p.Met446CysfsTer?
NM_001290129.2:c.1269del (POMGNT1)	NP_001277058.2:p.Met424CysfsTer?
NM_001290130.2:c.906del (POMGNT1)	NP_001277059.2:p.Met303CysfsTer?
NM_017739.4:c.1335del (POMGNT1) MANE Select	NP_060209.4:p.Met446CysfsTer?