Canonical Allele Identifier: CA2645440824

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46191790-AGGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46191794_46191798del , CM000663.2:g.46191794_46191798del	GRCh38
NC_000001.10:g.46657466_46657470del , CM000663.1:g.46657466_46657470del	GRCh37
NC_000001.9:g.46430053_46430057del	NCBI36
NG_009205.2:g.33511_33515del
NG_009205.3:g.33511_33515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1539+303_1539+307del (POMGNT1)	ENSP00000379698.4:n.1539+303_1539+307del
ENST00000477114.2:n.2101+303_2101+307del (POMGNT1)
ENST00000497439.6:n.1711+303_1711+307del (POMGNT1)
ENST00000684817.1:n.1899+303_1899+307del (POMGNT1)
ENST00000684898.1:n.2101+303_2101+307del (POMGNT1)
ENST00000685230.1:c.*849+303_*849+307del (POMGNT1)	ENSP00000510305.1:n.*849+303_*849+307del
ENST00000685275.1:n.2086+303_2086+307del (POMGNT1)
ENST00000685444.1:c.1440+303_1440+307del (POMGNT1)	ENSP00000510762.1:n.1440+303_1440+307del
ENST00000685704.1:n.2101+303_2101+307del (POMGNT1)
ENST00000685775.1:n.3369_3373del (POMGNT1)
ENST00000685833.1:n.2720_2724del (POMGNT1)
ENST00000686252.1:n.2613+303_2613+307del (POMGNT1)
ENST00000686379.1:c.*663+303_*663+307del (POMGNT1)	ENSP00000508913.1:n.*663+303_*663+307del
ENST00000686724.1:n.2014_2018del (POMGNT1)
ENST00000686737.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000508736.1:n.1539+303_1539+307del
ENST00000687112.1:n.2405+303_2405+307del (POMGNT1)
ENST00000687149.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000509745.1:n.1539+303_1539+307del
ENST00000687197.1:c.*479+303_*479+307del (POMGNT1)	ENSP00000510749.1:n.*479+303_*479+307del
ENST00000687235.1:n.2404_2408del (POMGNT1)
ENST00000687613.1:n.2289+303_2289+307del (POMGNT1)
ENST00000687683.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000508522.1:n.1539+303_1539+307del
ENST00000688032.1:n.2101+303_2101+307del (POMGNT1)
ENST00000688596.1:n.2190+303_2190+307del (POMGNT1)
ENST00000688608.1:c.1440+303_1440+307del (POMGNT1)	ENSP00000508890.1:n.1440+303_1440+307del
ENST00000688919.1:n.2735+303_2735+307del (POMGNT1)
ENST00000689031.1:n.2101+303_2101+307del (POMGNT1)
ENST00000689717.1:n.1711+303_1711+307del (POMGNT1)
ENST00000689756.1:c.*1171+303_*1171+307del (POMGNT1)	ENSP00000509023.1:n.*1171+303_*1171+307del
ENST00000690377.1:n.1886+303_1886+307del (POMGNT1)
ENST00000690678.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000508703.1:n.1539+303_1539+307del
ENST00000691209.1:c.*479+303_*479+307del (POMGNT1)	ENSP00000510112.1:n.*479+303_*479+307del
ENST00000691243.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000510654.1:n.1539+303_1539+307del
ENST00000692169.1:n.1991_1995del (POMGNT1)
ENST00000692202.1:n.2114+303_2114+307del (POMGNT1)
ENST00000692322.1:c.*1391+303_*1391+307del (POMGNT1)	ENSP00000509017.1:n.*1391+303_*1391+307del
ENST00000692369.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000508453.1:n.1539+303_1539+307del
ENST00000692599.1:n.2404_2408del (POMGNT1)
ENST00000692635.1:c.*479+303_*479+307del (POMGNT1)	ENSP00000508425.1:n.*479+303_*479+307del
ENST00000693168.1:n.2103_2107del (POMGNT1)
ENST00000693218.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000510577.1:n.1539+303_1539+307del
ENST00000693223.1:n.2487+303_2487+307del (POMGNT1)
ENST00000693365.1:n.4476_4480del (POMGNT1)
ENST00000371984.8:c.1539+303_1539+307del (POMGNT1) MANE Select	ENSP00000361052.3:n.1539+303_1539+307del
ENST00000371984.7:c.1539+303_1539+307del (POMGNT1)	ENSP00000361052.3:n.1539+303_1539+307del
ENST00000371992.1:c.1539+303_1539+307del (POMGNT1)	ENSP00000361060.1:n.1539+303_1539+307del
ENST00000396420.7:c.*1208+303_*1208+307del (POMGNT1)	ENSP00000379698.3:n.*1208+303_*1208+307del
ENST00000463030.1:n.463_467del (POMGNT1)
ENST00000485714.1:n.1228_1232del (POMGNT1)
NM_001243766.1:c.1539+303_1539+307del (POMGNT1)	NP_001230695.1:n.1539+303_1539+307del
NM_001290129.1:c.1473+303_1473+307del (POMGNT1)	NP_001277058.1:n.1473+303_1473+307del
NM_001290130.1:c.1110+303_1110+307del (POMGNT1)	NP_001277059.1:n.1110+303_1110+307del
NM_017739.3:c.1539+303_1539+307del (POMGNT1)	NP_060209.3:n.1539+303_1539+307del
XM_005271010.1:c.1539+303_1539+307del (POMGNT1)	XP_005271067.1:n.1539+303_1539+307del
XM_006710755.1:c.1539+303_1539+307del (POMGNT1)	XP_006710818.1:n.1539+303_1539+307del
XM_006710756.1:c.1539+303_1539+307del (POMGNT1)	XP_006710819.1:n.1539+303_1539+307del
XM_011540460.1:c.679-4408_679-4404del (TSPAN1)	XP_011538762.1:n.679-4408_679-4404del
XM_011540461.1:c.634-4408_634-4404del (TSPAN1)	XP_011538763.1:n.634-4408_634-4404del
XM_011541759.1:c.1473+303_1473+307del (POMGNT1)	XP_011540061.1:n.1473+303_1473+307del
XM_011541760.1:c.1473+303_1473+307del (POMGNT1)	XP_011540062.1:n.1473+303_1473+307del
XM_011541761.1:c.447+303_447+307del (POMGNT1)	XP_011540063.1:n.447+303_447+307del
XM_011540460.3:c.679-4408_679-4404del (TSPAN1)	XP_011538762.1:n.679-4408_679-4404del
XM_011541760.3:c.1473+303_1473+307del (POMGNT1)	XP_011540062.1:n.1473+303_1473+307del
XM_017001690.1:c.1539+303_1539+307del (POMGNT1)	XP_016857179.1:n.1539+303_1539+307del
NM_001243766.2:c.1539+303_1539+307del (POMGNT1)	NP_001230695.2:n.1539+303_1539+307del
NM_001290129.2:c.1473+303_1473+307del (POMGNT1)	NP_001277058.2:n.1473+303_1473+307del
NM_001290130.2:c.1110+303_1110+307del (POMGNT1)	NP_001277059.2:n.1110+303_1110+307del
NM_017739.4:c.1539+303_1539+307del (POMGNT1) MANE Select	NP_060209.4:n.1539+303_1539+307del