Canonical Allele Identifier: CA1917121
Gene: GPD2 HGNC NCBI

Linked Data

dbSNP Id: rs113498402

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156579013_156579014del , CM000664.2:g.156579013_156579014del GRCh38
NC_000002.11:g.157435525_157435526del , CM000664.1:g.157435525_157435526del GRCh37
NC_000002.10:g.157143771_157143772del NCBI36
NG_016606.1:g.148561_148562del
NG_016606.2:g.148561_148562del

Transcript Alleles

HGVS Amino-acid change
ENST00000438166.7:c.1880+12_1880+13del MANE Select ENSP00000409708.2:n.1880+12_1880+13del
ENST00000310454.10:c.1880+12_1880+13del ENSP00000308610.5:n.1880+12_1880+13del
ENST00000409125.8:c.1502+12_1502+13del ENSP00000386484.5:n.1502+12_1502+13del
ENST00000409674.5:c.1880+12_1880+13del ENSP00000386425.1:n.1880+12_1880+13del
ENST00000409861.5:c.1880+12_1880+13del ENSP00000386626.1:n.1880+12_1880+13del
ENST00000438166.6:c.1880+12_1880+13del ENSP00000409708.2:n.1880+12_1880+13del
ENST00000464846.5:n.246_247del
ENST00000540309.5:c.1135-73_1135-72del ENSP00000440892.1:n.1135-73_1135-72del
NM_000408.4:c.1880+12_1880+13del NP_000399.3:n.1880+12_1880+13del
NM_001083112.2:c.1880+12_1880+13del NP_001076581.2:n.1880+12_1880+13del
XM_005246469.1:c.1880+12_1880+13del XP_005246526.1:n.1880+12_1880+13del
XM_005246470.3:c.1778+12_1778+13del XP_005246527.1:n.1778+12_1778+13del
XM_011510977.1:c.1880+12_1880+13del XP_011509279.1:n.1880+12_1880+13del
XM_011510978.1:c.1778+12_1778+13del XP_011509280.1:n.1778+12_1778+13del
XM_011510979.1:c.1502+12_1502+13del XP_011509281.1:n.1502+12_1502+13del
XM_011510980.1:c.1199+12_1199+13del XP_011509282.1:n.1199+12_1199+13del
XM_005246469.2:c.1880+12_1880+13del XP_005246526.1:n.1880+12_1880+13del
XM_011510977.2:c.1880+12_1880+13del XP_011509279.1:n.1880+12_1880+13del
XM_011510978.2:c.1778+12_1778+13del XP_011509280.1:n.1778+12_1778+13del
XM_017003830.1:c.1880+12_1880+13del XP_016859319.1:n.1880+12_1880+13del
XM_024452798.1:c.1880+12_1880+13del XP_024308566.1:n.1880+12_1880+13del
NM_000408.5:c.1880+12_1880+13del MANE Select NP_000399.3:n.1880+12_1880+13del
NM_001083112.3:c.1880+12_1880+13del NP_001076581.2:n.1880+12_1880+13del