Canonical Allele Identifier: CA2647253753

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684369-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684379_114684381dup , CM000663.2:g.114684379_114684381dup	GRCh38
NC_000001.10:g.115227000_115227002dup , CM000663.1:g.115227000_115227002dup	GRCh37
NC_000001.9:g.115028523_115028525dup	NCBI36
NG_008012.1:g.16184_16186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-8_370-6dup	ENSP00000358551.4:n.370-8_370-6dup
ENST00000520113.7:c.382-8_382-6dup MANE Select	ENSP00000430075.3:n.382-8_382-6dup
ENST00000637080.1:c.385-8_385-6dup	ENSP00000489753.1:n.385-8_385-6dup
ENST00000639077.1:n.47-8_47-6dup
ENST00000369538.3:c.469-8_469-6dup	ENSP00000358551.3:n.469-8_469-6dup
ENST00000485564.3:n.256-8_256-6dup
ENST00000520113.6:c.481-8_481-6dup	ENSP00000430075.2:n.481-8_481-6dup
NM_000036.2:c.481-8_481-6dup	NP_000027.2:n.481-8_481-6dup
NM_001172626.1:c.469-8_469-6dup	NP_001166097.1:n.469-8_469-6dup
NM_000036.3:c.382-8_382-6dup MANE Select	NP_000027.3:n.382-8_382-6dup
NM_001172626.2:c.370-8_370-6dup	NP_001166097.2:n.370-8_370-6dup