Canonical Allele Identifier: CA2662079544

Gene: AGPS

Linked Data

• gnomAD v4: 2-177461895-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177461900_177461903del , CM000664.2:g.177461900_177461903del	GRCh38
NC_000002.11:g.178326628_178326631del , CM000664.1:g.178326628_178326631del	GRCh37
NC_000002.10:g.178034874_178034877del	NCBI36
NG_008968.1:g.74158_74161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.878_881del MANE Select	ENSP00000264167.4:p.Glu293ValfsTer17
ENST00000460342.2:n.2290_2293del
ENST00000637633.2:c.878_881del	ENSP00000490844.2:p.Glu293ValfsTer17
ENST00000642466.2:c.878_881del	ENSP00000494433.2:p.Glu293ValfsTer17
ENST00000679421.1:n.2107_2110del
ENST00000679459.1:c.878_881del	ENSP00000506137.1:p.Glu293ValfsTer17
ENST00000679478.1:c.608_611del	ENSP00000506484.1:p.Glu203ValfsTer17
ENST00000679639.1:n.681_684del
ENST00000679994.1:c.608_611del	ENSP00000504957.1:p.Glu203ValfsTer17
ENST00000680028.1:n.2242_2245del
ENST00000680155.1:c.608_611del	ENSP00000505333.1:p.Glu203ValfsTer17
ENST00000680705.1:n.922_925del
ENST00000680770.1:c.878_881del	ENSP00000505536.1:p.Glu293ValfsTer17
ENST00000680893.1:c.*126_*129del	ENSP00000505929.1:n.*126_*129del
ENST00000680910.1:n.908_911del
ENST00000681028.1:c.608_611del	ENSP00000506323.1:p.Glu203ValfsTer17
ENST00000681032.1:c.*256_*259del	ENSP00000505205.1:n.*256_*259del
ENST00000681449.1:c.608_611del	ENSP00000505342.1:p.Glu203ValfsTer17
ENST00000681565.1:c.878_881del	ENSP00000505620.1:p.Glu293ValfsTer17
ENST00000681752.1:c.*648_*651del	ENSP00000504994.1:n.*648_*651del
ENST00000681891.1:n.4622_4625del
ENST00000264167.8:c.878_881del	ENSP00000264167.4:p.Glu293ValfsTer17
ENST00000409888.1:c.350+41542_350+41545del	ENSP00000386688.1:n.350+41542_350+41545del
NM_003659.3:c.878_881del	NP_003650.1:p.Glu293ValfsTer17
XM_011512041.1:c.608_611del	XP_011510343.1:p.Glu203ValfsTer17
XM_011512042.1:c.608_611del	XP_011510344.1:p.Glu203ValfsTer17
XM_011512043.1:c.143_146del	XP_011510345.1:p.Glu48ValfsTer17
XM_011512044.1:c.878_881del	XP_011510346.1:p.Glu293ValfsTer17
XM_011512045.1:c.878_881del	XP_011510347.1:p.Glu293ValfsTer17
XM_011512041.2:c.608_611del	XP_011510343.1:p.Glu203ValfsTer17
XM_011512043.2:c.143_146del	XP_011510345.1:p.Glu48ValfsTer17
XR_001739007.2:n.895_898del
NM_003659.4:c.878_881del MANE Select	NP_003650.1:p.Glu293ValfsTer17