Canonical Allele Identifier: CA2647253926

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684463-T-TCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684464_114684466dup , CM000663.2:g.114684464_114684466dup	GRCh38
NC_000001.10:g.115227085_115227087dup , CM000663.1:g.115227085_115227087dup	GRCh37
NC_000001.9:g.115028608_115028610dup	NCBI36
NG_008012.1:g.16090_16092dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-102_370-100dup	ENSP00000358551.4:n.370-102_370-100dup
ENST00000520113.7:c.382-102_382-100dup MANE Select	ENSP00000430075.3:n.382-102_382-100dup
ENST00000637080.1:c.385-102_385-100dup	ENSP00000489753.1:n.385-102_385-100dup
ENST00000639077.1:n.24_26dup
ENST00000369538.3:c.469-102_469-100dup	ENSP00000358551.3:n.469-102_469-100dup
ENST00000485564.3:n.256-102_256-100dup
ENST00000520113.6:c.481-102_481-100dup	ENSP00000430075.2:n.481-102_481-100dup
NM_000036.2:c.481-102_481-100dup	NP_000027.2:n.481-102_481-100dup
NM_001172626.1:c.469-102_469-100dup	NP_001166097.1:n.469-102_469-100dup
NM_000036.3:c.382-102_382-100dup MANE Select	NP_000027.3:n.382-102_382-100dup
NM_001172626.2:c.370-102_370-100dup	NP_001166097.2:n.370-102_370-100dup