Canonical Allele Identifier: CA833812

Gene: POMGNT1

Linked Data

• ClinVar Variation Id: 1083226
• ClinVar RCV Id: RCV001399853
• dbSNP Id: rs769193448
• ExAC: 1:46662527 GGGTACAACA / G
• gnomAD v2: 1-46662527-GGGTACAACA-G
• gnomAD v3: 1-46196855-GGGTACAACA-G
• gnomAD v4: 1-46196855-GGGTACAACA-G
• MyVariant Identifiers: chr1:g.46662528_46662536del (hg19) ; chr1:g.46196856_46196864del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46196859_46196867del , CM000663.2:g.46196859_46196867del	GRCh38
NC_000001.10:g.46662531_46662539del , CM000663.1:g.46662531_46662539del	GRCh37
NC_000001.9:g.46435118_46435126del	NCBI36
NG_009205.2:g.28442_28450del
NG_009205.3:g.28442_28450del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.236-15_236-7del	ENSP00000379698.4:n.236-15_236-7del
ENST00000477114.2:n.408-15_408-7del
ENST00000497439.6:n.408-15_408-7del
ENST00000684817.1:n.404-15_404-7del
ENST00000684898.1:n.408-15_408-7del
ENST00000685230.1:c.236-15_236-7del	ENSP00000510305.1:n.236-15_236-7del
ENST00000685275.1:n.393-15_393-7del
ENST00000685444.1:c.236-15_236-7del	ENSP00000510762.1:n.236-15_236-7del
ENST00000685704.1:n.408-15_408-7del
ENST00000685775.1:n.513_521del
ENST00000685833.1:n.381-15_381-7del
ENST00000686252.1:n.642_650del
ENST00000686379.1:c.236-15_236-7del	ENSP00000508913.1:n.236-15_236-7del
ENST00000686724.1:n.408-15_408-7del
ENST00000686737.1:c.236-15_236-7del	ENSP00000508736.1:n.236-15_236-7del
ENST00000687112.1:n.408-15_408-7del
ENST00000687149.1:c.236-15_236-7del	ENSP00000509745.1:n.236-15_236-7del
ENST00000687197.1:c.236-15_236-7del	ENSP00000510749.1:n.236-15_236-7del
ENST00000687235.1:n.408-15_408-7del
ENST00000687613.1:n.404-15_404-7del
ENST00000687683.1:c.236-15_236-7del	ENSP00000508522.1:n.236-15_236-7del
ENST00000688032.1:n.408-15_408-7del
ENST00000688596.1:n.408-15_408-7del
ENST00000688608.1:c.236-15_236-7del	ENSP00000508890.1:n.236-15_236-7del
ENST00000688919.1:n.389-15_389-7del
ENST00000689031.1:n.408-15_408-7del
ENST00000689717.1:n.408-15_408-7del
ENST00000689756.1:c.235+106_235+114del	ENSP00000509023.1:n.235+106_235+114del
ENST00000690377.1:n.408-15_408-7del
ENST00000690678.1:c.236-15_236-7del	ENSP00000508703.1:n.236-15_236-7del
ENST00000691209.1:c.236-15_236-7del	ENSP00000510112.1:n.236-15_236-7del
ENST00000691243.1:c.236-15_236-7del	ENSP00000510654.1:n.236-15_236-7del
ENST00000692169.1:n.408-15_408-7del
ENST00000692202.1:n.404-15_404-7del
ENST00000692322.1:c.*88-15_*88-7del	ENSP00000509017.1:n.*88-15_*88-7del
ENST00000692369.1:c.236-15_236-7del	ENSP00000508453.1:n.236-15_236-7del
ENST00000692599.1:n.408-15_408-7del
ENST00000692635.1:c.236-15_236-7del	ENSP00000508425.1:n.236-15_236-7del
ENST00000693168.1:n.408-15_408-7del
ENST00000693218.1:c.236-15_236-7del	ENSP00000510577.1:n.236-15_236-7del
ENST00000693223.1:n.880-15_880-7del
ENST00000693365.1:n.467_475del
ENST00000371984.8:c.236-15_236-7del MANE Select	ENSP00000361052.3:n.236-15_236-7del
ENST00000371984.7:c.236-15_236-7del	ENSP00000361052.3:n.236-15_236-7del
ENST00000371992.1:c.236-15_236-7del	ENSP00000361060.1:n.236-15_236-7del
ENST00000396420.7:c.236-15_236-7del	ENSP00000379698.3:n.236-15_236-7del
ENST00000489985.1:n.517-15_517-7del
ENST00000497439.5:n.360-15_360-7del
NM_001243766.1:c.236-15_236-7del	NP_001230695.1:n.236-15_236-7del
NM_001290129.1:c.170-15_170-7del	NP_001277058.1:n.170-15_170-7del
NM_001290130.1:c.-194-15_-194-7del	NP_001277059.1:n.-194-15_-194-7del
NM_017739.3:c.236-15_236-7del	NP_060209.3:n.236-15_236-7del
XM_005271010.1:c.236-15_236-7del	XP_005271067.1:n.236-15_236-7del
XM_006710755.1:c.236-15_236-7del	XP_006710818.1:n.236-15_236-7del
XM_006710756.1:c.236-15_236-7del	XP_006710819.1:n.236-15_236-7del
XM_011541759.1:c.170-15_170-7del	XP_011540061.1:n.170-15_170-7del
XM_011541760.1:c.170-15_170-7del	XP_011540062.1:n.170-15_170-7del
XR_946706.1:n.395-15_395-7del
XM_011541760.3:c.170-15_170-7del	XP_011540062.1:n.170-15_170-7del
XM_017001690.1:c.236-15_236-7del	XP_016857179.1:n.236-15_236-7del
NM_001243766.2:c.236-15_236-7del	NP_001230695.2:n.236-15_236-7del
NM_001290129.2:c.170-15_170-7del	NP_001277058.2:n.170-15_170-7del
NM_001290130.2:c.-194-15_-194-7del	NP_001277059.2:n.-194-15_-194-7del
NM_017739.4:c.236-15_236-7del MANE Select	NP_060209.4:n.236-15_236-7del