Canonical Allele Identifier: CA2474081455

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190637_46190638delinsAG , CM000663.2:g.46190637_46190638delinsAG	GRCh38
NC_000001.10:g.46656309_46656310delinsAG , CM000663.1:g.46656309_46656310delinsAG	GRCh37
NC_000001.9:g.46428896_46428897delinsAG	NCBI36
NG_009205.2:g.34668_34669delinsCT
NG_009205.3:g.34668_34669delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000379698.4:n.1604+82_1604+83delinsCT
ENST00000477114.2:n.2166+82_2166+83delinsCT (POMGNT1)
ENST00000497439.6:n.1776+82_1776+83delinsCT (POMGNT1)
ENST00000684817.1:n.1964+82_1964+83delinsCT (POMGNT1)
ENST00000684898.1:n.2166+82_2166+83delinsCT (POMGNT1)
ENST00000685230.1:c.*914+82_*914+83delinsCT (POMGNT1)	ENSP00000510305.1:n.*914+82_*914+83delinsCT
ENST00000685275.1:n.2151+82_2151+83delinsCT (POMGNT1)
ENST00000685444.1:c.1505+82_1505+83delinsCT (POMGNT1)	ENSP00000510762.1:n.1505+82_1505+83delinsCT
ENST00000685704.1:n.2167-17_2167-16delinsCT (POMGNT1)
ENST00000685775.1:n.4526_4527delinsCT (POMGNT1)
ENST00000685833.1:n.3877_3878delinsCT (POMGNT1)
ENST00000686252.1:n.2678+82_2678+83delinsCT (POMGNT1)
ENST00000686379.1:c.*728+82_*728+83delinsCT (POMGNT1)	ENSP00000508913.1:n.*728+82_*728+83delinsCT
ENST00000686724.1:n.3171_3172delinsCT (POMGNT1)
ENST00000686737.1:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000508736.1:n.1604+82_1604+83delinsCT
ENST00000687112.1:n.2470+82_2470+83delinsCT (POMGNT1)
ENST00000687149.1:c.1540-17_1540-16delinsCT (POMGNT1)	ENSP00000509745.1:n.1540-17_1540-16delinsCT
ENST00000687197.1:c.*544+82_*544+83delinsCT (POMGNT1)	ENSP00000510749.1:n.*544+82_*544+83delinsCT
ENST00000687235.1:n.3561_3562delinsCT (POMGNT1)
ENST00000687613.1:n.2290-649_2290-648delinsCT (POMGNT1)
ENST00000687683.1:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000508522.1:n.1604+82_1604+83delinsCT
ENST00000688032.1:n.2141+107_2141+108delinsCT (POMGNT1)
ENST00000688596.1:n.2255+82_2255+83delinsCT (POMGNT1)
ENST00000688608.1:c.1505+82_1505+83delinsCT (POMGNT1)	ENSP00000508890.1:n.1505+82_1505+83delinsCT
ENST00000688919.1:n.2882_2883delinsCT (POMGNT1)
ENST00000689031.1:n.2102-649_2102-648delinsCT (POMGNT1)
ENST00000689717.1:n.1858_1859delinsCT (POMGNT1)
ENST00000689756.1:c.*1236+82_*1236+83delinsCT (POMGNT1)	ENSP00000509023.1:n.*1236+82_*1236+83delinsCT
ENST00000690377.1:n.1951+82_1951+83delinsCT (POMGNT1)
ENST00000690678.1:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000508703.1:n.1604+82_1604+83delinsCT
ENST00000691209.1:c.*544+82_*544+83delinsCT (POMGNT1)	ENSP00000510112.1:n.*544+82_*544+83delinsCT
ENST00000691243.1:c.1579+107_1579+108delinsCT (POMGNT1)	ENSP00000510654.1:n.1579+107_1579+108delinsCT
ENST00000692169.1:n.3148_3149delinsCT (POMGNT1)
ENST00000692202.1:n.2179+82_2179+83delinsCT (POMGNT1)
ENST00000692322.1:c.*1392-121_*1392-120delinsCT (POMGNT1)	ENSP00000509017.1:n.*1392-121_*1392-120delinsCT
ENST00000692369.1:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000508453.1:n.1604+82_1604+83delinsCT
ENST00000692599.1:n.3479+82_3479+83delinsCT (POMGNT1)
ENST00000692635.1:c.*480-121_*480-120delinsCT (POMGNT1)	ENSP00000508425.1:n.*480-121_*480-120delinsCT
ENST00000693168.1:n.3260_3261delinsCT (POMGNT1)
ENST00000693218.1:c.*45_*46delinsCT (POMGNT1)	ENSP00000510577.1:n.*45_*46delinsCT
ENST00000693223.1:n.2552+82_2552+83delinsCT (POMGNT1)
ENST00000693365.1:n.5633_5634delinsCT (POMGNT1)
ENST00000371984.8:c.1604+82_1604+83delinsCT (POMGNT1) MANE Select	ENSP00000361052.3:n.1604+82_1604+83delinsCT
ENST00000371984.7:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000361052.3:n.1604+82_1604+83delinsCT
ENST00000371992.1:c.1604+82_1604+83delinsCT (POMGNT1)	ENSP00000361060.1:n.1604+82_1604+83delinsCT
ENST00000396420.7:c.*1273+82_*1273+83delinsCT (POMGNT1)	ENSP00000379698.3:n.*1273+82_*1273+83delinsCT
ENST00000480972.1:n.253+82_253+83delinsCT (POMGNT1)
ENST00000485714.1:n.2385_2386delinsCT (POMGNT1)
NM_001243766.1:c.1604+82_1604+83delinsCT (POMGNT1)	NP_001230695.1:n.1604+82_1604+83delinsCT
NM_001290129.1:c.1538+82_1538+83delinsCT (POMGNT1)	NP_001277058.1:n.1538+82_1538+83delinsCT
NM_001290130.1:c.1175+82_1175+83delinsCT (POMGNT1)	NP_001277059.1:n.1175+82_1175+83delinsCT
NM_017739.3:c.1604+82_1604+83delinsCT (POMGNT1)	NP_060209.3:n.1604+82_1604+83delinsCT
XM_005271010.1:c.1604+82_1604+83delinsCT (POMGNT1)	XP_005271067.1:n.1604+82_1604+83delinsCT
XM_006710755.1:c.1604+82_1604+83delinsCT (POMGNT1)	XP_006710818.1:n.1604+82_1604+83delinsCT
XM_006710756.1:c.1604+82_1604+83delinsCT (POMGNT1)	XP_006710819.1:n.1604+82_1604+83delinsCT
XM_011540460.1:c.678+5329_678+5330delinsAG (TSPAN1)	XP_011538762.1:n.678+5329_678+5330delinsAG
XM_011540461.1:c.633+5329_633+5330delinsAG (TSPAN1)	XP_011538763.1:n.633+5329_633+5330delinsAG
XM_011541759.1:c.1538+82_1538+83delinsCT (POMGNT1)	XP_011540061.1:n.1538+82_1538+83delinsCT
XM_011541760.1:c.1538+82_1538+83delinsCT (POMGNT1)	XP_011540062.1:n.1538+82_1538+83delinsCT
XM_011541761.1:c.512+82_512+83delinsCT (POMGNT1)	XP_011540063.1:n.512+82_512+83delinsCT
XM_011540460.3:c.678+5329_678+5330delinsAG (TSPAN1)	XP_011538762.1:n.678+5329_678+5330delinsAG
XM_011541760.3:c.1538+82_1538+83delinsCT (POMGNT1)	XP_011540062.1:n.1538+82_1538+83delinsCT
XM_017001690.1:c.1604+82_1604+83delinsCT (POMGNT1)	XP_016857179.1:n.1604+82_1604+83delinsCT
NM_001243766.2:c.1604+82_1604+83delinsCT (POMGNT1)	NP_001230695.2:n.1604+82_1604+83delinsCT
NM_001290129.2:c.1538+82_1538+83delinsCT (POMGNT1)	NP_001277058.2:n.1538+82_1538+83delinsCT
NM_001290130.2:c.1175+82_1175+83delinsCT (POMGNT1)	NP_001277059.2:n.1175+82_1175+83delinsCT
NM_017739.4:c.1604+82_1604+83delinsCT (POMGNT1) MANE Select	NP_060209.4:n.1604+82_1604+83delinsCT