Canonical Allele Identifier: CA736239713

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1370243667
• gnomAD v3: 1-46189589-CAG-C
• gnomAD v4: 1-46189589-CAG-C
• MyVariant Identifiers: chr1:g.46655262_46655263del (hg19) ; chr1:g.46189590_46189591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189593_46189594del , CM000663.2:g.46189593_46189594del	GRCh38
NC_000001.10:g.46655265_46655266del , CM000663.1:g.46655265_46655266del	GRCh37
NC_000001.9:g.46427852_46427853del	NCBI36
NG_009205.2:g.35715_35716del
NG_009205.3:g.35715_35716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1786-24_1786-23del (POMGNT1)	ENSP00000379698.4:n.1786-24_1786-23del
ENST00000497439.6:n.1958-24_1958-23del (POMGNT1)
ENST00000684817.1:n.2146-24_2146-23del (POMGNT1)
ENST00000684898.1:n.2348-24_2348-23del (POMGNT1)
ENST00000685230.1:c.*1096-24_*1096-23del (POMGNT1)	ENSP00000510305.1:n.*1096-24_*1096-23del
ENST00000685275.1:n.2333-24_2333-23del (POMGNT1)
ENST00000685444.1:c.1687-24_1687-23del (POMGNT1)	ENSP00000510762.1:n.1687-24_1687-23del
ENST00000685704.1:n.2452-24_2452-23del (POMGNT1)
ENST00000685833.1:n.4179-24_4179-23del (POMGNT1)
ENST00000686252.1:n.2860-24_2860-23del (POMGNT1)
ENST00000686379.1:c.*910-24_*910-23del (POMGNT1)	ENSP00000508913.1:n.*910-24_*910-23del
ENST00000686724.1:n.3473-24_3473-23del (POMGNT1)
ENST00000686737.1:c.1786-24_1786-23del (POMGNT1)	ENSP00000508736.1:n.1786-24_1786-23del
ENST00000687112.1:n.2652-24_2652-23del (POMGNT1)
ENST00000687149.1:c.1825-24_1825-23del (POMGNT1)	ENSP00000509745.1:n.1825-24_1825-23del
ENST00000687197.1:c.*726-24_*726-23del (POMGNT1)	ENSP00000510749.1:n.*726-24_*726-23del
ENST00000687235.1:n.3863-24_3863-23del (POMGNT1)
ENST00000687613.1:n.2426-24_2426-23del (POMGNT1)
ENST00000687683.1:c.1786-24_1786-23del (POMGNT1)	ENSP00000508522.1:n.1786-24_1786-23del
ENST00000688032.1:n.2323-24_2323-23del (POMGNT1)
ENST00000688596.1:n.2437-24_2437-23del (POMGNT1)
ENST00000688608.1:c.1687-24_1687-23del (POMGNT1)	ENSP00000508890.1:n.1687-24_1687-23del
ENST00000689031.1:n.2238-24_2238-23del (POMGNT1)
ENST00000689756.1:c.*1418-24_*1418-23del (POMGNT1)	ENSP00000509023.1:n.*1418-24_*1418-23del
ENST00000690377.1:n.2133-24_2133-23del (POMGNT1)
ENST00000690678.1:c.1786-24_1786-23del (POMGNT1)	ENSP00000508703.1:n.1786-24_1786-23del
ENST00000691185.1:n.233_234del (POMGNT1)
ENST00000691209.1:c.*726-24_*726-23del (POMGNT1)	ENSP00000510112.1:n.*726-24_*726-23del
ENST00000691243.1:c.*177-24_*177-23del (POMGNT1)	ENSP00000510654.1:n.*177-24_*177-23del
ENST00000692202.1:n.2361-24_2361-23del (POMGNT1)
ENST00000692322.1:c.*1573-24_*1573-23del (POMGNT1)	ENSP00000509017.1:n.*1573-24_*1573-23del
ENST00000692369.1:c.1786-24_1786-23del (POMGNT1)	ENSP00000508453.1:n.1786-24_1786-23del
ENST00000692599.1:n.3661-24_3661-23del (POMGNT1)
ENST00000692635.1:c.*661-24_*661-23del (POMGNT1)	ENSP00000508425.1:n.*661-24_*661-23del
ENST00000693168.1:n.3562-24_3562-23del (POMGNT1)
ENST00000693218.1:c.*347-24_*347-23del (POMGNT1)	ENSP00000510577.1:n.*347-24_*347-23del
ENST00000693223.1:n.2734-24_2734-23del (POMGNT1)
ENST00000371984.8:c.1786-24_1786-23del (POMGNT1) MANE Select	ENSP00000361052.3:n.1786-24_1786-23del
ENST00000371984.7:c.1786-24_1786-23del (POMGNT1)	ENSP00000361052.3:n.1786-24_1786-23del
ENST00000371992.1:c.1786-24_1786-23del (POMGNT1)	ENSP00000361060.1:n.1786-24_1786-23del
ENST00000396420.7:c.*1455-24_*1455-23del (POMGNT1)	ENSP00000379698.3:n.*1455-24_*1455-23del
ENST00000480972.1:n.435-24_435-23del (POMGNT1)
NM_001243766.1:c.1786-24_1786-23del (POMGNT1)	NP_001230695.1:n.1786-24_1786-23del
NM_001290129.1:c.1720-24_1720-23del (POMGNT1)	NP_001277058.1:n.1720-24_1720-23del
NM_001290130.1:c.1357-24_1357-23del (POMGNT1)	NP_001277059.1:n.1357-24_1357-23del
NM_017739.3:c.1786-24_1786-23del (POMGNT1)	NP_060209.3:n.1786-24_1786-23del
XM_005271010.1:c.1786-24_1786-23del (POMGNT1)	XP_005271067.1:n.1786-24_1786-23del
XM_006710755.1:c.1786-24_1786-23del (POMGNT1)	XP_006710818.1:n.1786-24_1786-23del
XM_006710756.1:c.1786-24_1786-23del (POMGNT1)	XP_006710819.1:n.1786-24_1786-23del
XM_011540460.1:c.678+4285_678+4286del (TSPAN1)	XP_011538762.1:n.678+4285_678+4286del
XM_011540461.1:c.633+4285_633+4286del (TSPAN1)	XP_011538763.1:n.633+4285_633+4286del
XM_011541759.1:c.1720-24_1720-23del (POMGNT1)	XP_011540061.1:n.1720-24_1720-23del
XM_011541760.1:c.1720-24_1720-23del (POMGNT1)	XP_011540062.1:n.1720-24_1720-23del
XM_011541761.1:c.694-24_694-23del (POMGNT1)	XP_011540063.1:n.694-24_694-23del
XM_011540460.3:c.678+4285_678+4286del (TSPAN1)	XP_011538762.1:n.678+4285_678+4286del
XM_011541760.3:c.1720-24_1720-23del (POMGNT1)	XP_011540062.1:n.1720-24_1720-23del
XM_017001690.1:c.1786-24_1786-23del (POMGNT1)	XP_016857179.1:n.1786-24_1786-23del
NM_001243766.2:c.1786-24_1786-23del (POMGNT1)	NP_001230695.2:n.1786-24_1786-23del
NM_001290129.2:c.1720-24_1720-23del (POMGNT1)	NP_001277058.2:n.1720-24_1720-23del
NM_001290130.2:c.1357-24_1357-23del (POMGNT1)	NP_001277059.2:n.1357-24_1357-23del
NM_017739.4:c.1786-24_1786-23del (POMGNT1) MANE Select	NP_060209.4:n.1786-24_1786-23del