Canonical Allele Identifier: CA2662084715

Gene: AGPS

Linked Data

• ClinVar Variation Id: 2756490
• ClinVar RCV Id: RCV003571786
• dbSNP Id: rs2105733092
• gnomAD v4: 2-177521252-TTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177521260_177521263del , CM000664.2:g.177521260_177521263del	GRCh38
NC_000002.11:g.178385988_178385991del , CM000664.1:g.178385988_178385991del	GRCh37
NC_000002.10:g.178094234_178094237del	NCBI36
NG_008968.1:g.133518_133521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264167.11:c.1698-9_1698-6del MANE Select	ENSP00000264167.4:n.1698-9_1698-6del
ENST00000637633.2:c.1698-9_1698-6del	ENSP00000490844.2:n.1698-9_1698-6del
ENST00000642466.2:c.1698-9_1698-6del	ENSP00000494433.2:n.1698-9_1698-6del
ENST00000679421.1:n.2927-9_2927-6del
ENST00000679459.1:c.1698-9_1698-6del	ENSP00000506137.1:n.1698-9_1698-6del
ENST00000679478.1:c.1428-9_1428-6del	ENSP00000506484.1:n.1428-9_1428-6del
ENST00000679994.1:c.1428-9_1428-6del	ENSP00000504957.1:n.1428-9_1428-6del
ENST00000680028.1:n.3062-9_3062-6del
ENST00000680155.1:c.1428-9_1428-6del	ENSP00000505333.1:n.1428-9_1428-6del
ENST00000680390.1:n.733-9_733-6del
ENST00000680770.1:c.1698-9_1698-6del	ENSP00000505536.1:n.1698-9_1698-6del
ENST00000680893.1:c.*946-9_*946-6del	ENSP00000505929.1:n.*946-9_*946-6del
ENST00000681028.1:c.*125-9_*125-6del	ENSP00000506323.1:n.*125-9_*125-6del
ENST00000681032.1:c.*1076-9_*1076-6del	ENSP00000505205.1:n.*1076-9_*1076-6del
ENST00000681300.1:n.653-9_653-6del
ENST00000681449.1:c.1428-9_1428-6del	ENSP00000505342.1:n.1428-9_1428-6del
ENST00000681565.1:c.*831-9_*831-6del	ENSP00000505620.1:n.*831-9_*831-6del
ENST00000681752.1:c.*1468-9_*1468-6del	ENSP00000504994.1:n.*1468-9_*1468-6del
ENST00000681891.1:n.5333-9_5333-6del
ENST00000264167.8:c.1698-9_1698-6del	ENSP00000264167.4:n.1698-9_1698-6del
ENST00000409888.1:c.351-69_351-66del	ENSP00000386688.1:n.351-69_351-66del
NM_003659.3:c.1698-9_1698-6del	NP_003650.1:n.1698-9_1698-6del
XM_011512041.1:c.1428-9_1428-6del	XP_011510343.1:n.1428-9_1428-6del
XM_011512042.1:c.1428-9_1428-6del	XP_011510344.1:n.1428-9_1428-6del
XM_011512043.1:c.963-9_963-6del	XP_011510345.1:n.963-9_963-6del
XM_011512041.2:c.1428-9_1428-6del	XP_011510343.1:n.1428-9_1428-6del
XM_011512043.2:c.963-9_963-6del	XP_011510345.1:n.963-9_963-6del
XR_001739007.2:n.1606-9_1606-6del
NM_003659.4:c.1698-9_1698-6del MANE Select	NP_003650.1:n.1698-9_1698-6del