Canonical Allele Identifier: CA1190281901

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658248360

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684311_114684312insTGTATCTG , CM000663.2:g.114684311_114684312insTGTATCTG	GRCh38
NC_000001.10:g.115226932_115226933insTGTATCTG , CM000663.1:g.115226932_115226933insTGTATCTG	GRCh37
NC_000001.9:g.115028455_115028456insTGTATCTG	NCBI36
NG_008012.1:g.16246_16247insGATACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.424_425insGATACACA	ENSP00000358551.4:p.Ile142ArgfsTer33
ENST00000520113.7:c.436_437insGATACACA MANE Select	ENSP00000430075.3:p.Ile146ArgfsTer33
ENST00000637080.1:c.439_440insGATACACA	ENSP00000489753.1:p.Ile147ArgfsTer33
ENST00000639077.1:n.101_102insGATACACA
ENST00000369538.3:c.523_524insGATACACA	ENSP00000358551.3:p.Ile175ArgfsTer33
ENST00000485564.3:n.310_311insGATACACA
ENST00000520113.6:c.535_536insGATACACA	ENSP00000430075.2:p.Ile179ArgfsTer33
NM_000036.2:c.535_536insGATACACA	NP_000027.2:p.Ile179ArgfsTer33
NM_001172626.1:c.523_524insGATACACA	NP_001166097.1:p.Ile175ArgfsTer33
NM_000036.3:c.436_437insGATACACA MANE Select	NP_000027.3:p.Ile146ArgfsTer33
NM_001172626.2:c.424_425insGATACACA	NP_001166097.2:p.Ile142ArgfsTer33