Canonical Allele Identifier: CA16040747
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370335
ClinVar RCV Id: RCV000411800
dbSNP Id: rs1057516409

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192513_46192530del , CM000663.2:g.46192513_46192530del GRCh38
NC_000001.10:g.46658185_46658202del , CM000663.1:g.46658185_46658202del GRCh37
NC_000001.9:g.46430772_46430789del NCBI36
NG_009205.2:g.32790_32807del

Transcript Alleles

HGVS Amino-acid change
NM_001243766.1:c.1284+2_1284+19del (POMGNT1) VV
NM_001290129.1:c.1218+2_1218+19del (POMGNT1) VV
NM_001290130.1:c.855+2_855+19del (POMGNT1) VV
NM_017739.3:c.1284+2_1284+19del (POMGNT1) VV
XM_005271010.1:c.1284+2_1284+19del (POMGNT1)
XM_006710755.1:c.1284+2_1284+19del (POMGNT1)
XM_006710756.1:c.1284+2_1284+19del (POMGNT1)
XM_011540460.1:c.679-3689_679-3672del (TSPAN1) XP_011538762.1:p.=
XM_011540461.1:c.634-3689_634-3672del (TSPAN1) XP_011538763.1:p.=
XM_011541759.1:c.1218+2_1218+19del (POMGNT1)
XM_011541760.1:c.1218+2_1218+19del (POMGNT1)
XM_011541761.1:c.192+2_192+19del (POMGNT1)
XR_946706.1:n.1444+2_1444+19del (POMGNT1)
XM_011540460.3:c.679-3689_679-3672del (TSPAN1)
XM_011541760.3:c.1218+2_1218+19del (POMGNT1)
XM_017001690.1:c.1284+2_1284+19del (POMGNT1)
ENST00000371984.7:c.1284+2_1284+19del
ENST00000371992.1:c.1284+2_1284+19del
ENST00000396420.7:c.*953+2_*953+19del
ENST00000485714.1:n.670+2_670+19del