Canonical Allele Identifier: CA21918396

Gene: POMGNT1

Linked Data

• dbSNP Id: rs776497603
• gnomAD v4: 1-46197475-G-GA
• MyVariant Identifiers: chr1:g.46663147_46663148insA (hg19) ; chr1:g.46197475_46197476insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46197476dup , CM000663.2:g.46197476dup	GRCh38
NC_000001.10:g.46663148dup , CM000663.1:g.46663148dup	GRCh37
NC_000001.9:g.46435735dup	NCBI36
NG_009205.2:g.27830dup
NG_009205.3:g.27830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.120+226dup	ENSP00000379698.4:n.120+226dup
ENST00000477114.2:n.292+226dup
ENST00000497439.6:n.292+226dup
ENST00000684817.1:n.288+226dup
ENST00000684898.1:n.292+226dup
ENST00000685230.1:c.120+226dup	ENSP00000510305.1:n.120+226dup
ENST00000685275.1:n.277+226dup
ENST00000685444.1:c.120+226dup	ENSP00000510762.1:n.120+226dup
ENST00000685704.1:n.292+226dup
ENST00000685775.1:n.292+226dup
ENST00000685833.1:n.265+226dup
ENST00000686252.1:n.421+226dup
ENST00000686379.1:c.120+226dup	ENSP00000508913.1:n.120+226dup
ENST00000686724.1:n.292+226dup
ENST00000686737.1:c.120+226dup	ENSP00000508736.1:n.120+226dup
ENST00000687112.1:n.292+226dup
ENST00000687149.1:c.120+226dup	ENSP00000509745.1:n.120+226dup
ENST00000687197.1:c.120+226dup	ENSP00000510749.1:n.120+226dup
ENST00000687235.1:n.292+226dup
ENST00000687613.1:n.288+226dup
ENST00000687683.1:c.120+226dup	ENSP00000508522.1:n.120+226dup
ENST00000688032.1:n.292+226dup
ENST00000688596.1:n.292+226dup
ENST00000688608.1:c.120+226dup	ENSP00000508890.1:n.120+226dup
ENST00000688919.1:n.273+226dup
ENST00000689031.1:n.292+226dup
ENST00000689717.1:n.292+226dup
ENST00000689756.1:c.120+226dup	ENSP00000509023.1:n.120+226dup
ENST00000690377.1:n.292+226dup
ENST00000690678.1:c.120+226dup	ENSP00000508703.1:n.120+226dup
ENST00000691209.1:c.120+226dup	ENSP00000510112.1:n.120+226dup
ENST00000691243.1:c.120+226dup	ENSP00000510654.1:n.120+226dup
ENST00000692169.1:n.292+226dup
ENST00000692202.1:n.288+226dup
ENST00000692322.1:c.120+226dup	ENSP00000509017.1:n.120+226dup
ENST00000692369.1:c.120+226dup	ENSP00000508453.1:n.120+226dup
ENST00000692599.1:n.292+226dup
ENST00000692635.1:c.120+226dup	ENSP00000508425.1:n.120+226dup
ENST00000693168.1:n.292+226dup
ENST00000693218.1:c.120+226dup	ENSP00000510577.1:n.120+226dup
ENST00000693223.1:n.768+226dup
ENST00000693365.1:n.246+226dup
ENST00000371984.8:c.120+226dup MANE Select	ENSP00000361052.3:n.120+226dup
ENST00000371984.7:c.120+226dup	ENSP00000361052.3:n.120+226dup
ENST00000371992.1:c.120+226dup	ENSP00000361060.1:n.120+226dup
ENST00000396420.7:c.120+226dup	ENSP00000379698.3:n.120+226dup
ENST00000489985.1:n.401+226dup
ENST00000497439.5:n.244+226dup
NM_001243766.1:c.120+226dup	NP_001230695.1:n.120+226dup
NM_001290129.1:c.-115dup	NP_001277058.1:n.-115dup
NM_001290130.1:c.-444dup	NP_001277059.1:n.-444dup
NM_017739.3:c.120+226dup	NP_060209.3:n.120+226dup
XM_005271010.1:c.120+226dup	XP_005271067.1:n.120+226dup
XM_006710755.1:c.120+226dup	XP_006710818.1:n.120+226dup
XM_006710756.1:c.120+226dup	XP_006710819.1:n.120+226dup
XM_011541759.1:c.-115dup	XP_011540061.1:n.-115dup
XM_011541760.1:c.-115dup	XP_011540062.1:n.-115dup
XR_946706.1:n.279+226dup
XM_017001690.1:c.120+226dup	XP_016857179.1:n.120+226dup
NM_001243766.2:c.120+226dup	NP_001230695.2:n.120+226dup
NM_001290129.2:c.-115dup	NP_001277058.2:n.-115dup
NM_001290130.2:c.-444dup	NP_001277059.2:n.-444dup
NM_017739.4:c.120+226dup MANE Select	NP_060209.4:n.120+226dup