Canonical Allele Identifier: CA2647253694

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684366-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684367_114684369del , CM000663.2:g.114684367_114684369del	GRCh38
NC_000001.10:g.115226988_115226990del , CM000663.1:g.115226988_115226990del	GRCh37
NC_000001.9:g.115028511_115028513del	NCBI36
NG_008012.1:g.16187_16189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-5_370-3del	ENSP00000358551.4:n.370-5_370-3del
ENST00000520113.7:c.382-5_382-3del MANE Select	ENSP00000430075.3:n.382-5_382-3del
ENST00000637080.1:c.385-5_385-3del	ENSP00000489753.1:n.385-5_385-3del
ENST00000639077.1:n.47-5_47-3del
ENST00000369538.3:c.469-5_469-3del	ENSP00000358551.3:n.469-5_469-3del
ENST00000485564.3:n.256-5_256-3del
ENST00000520113.6:c.481-5_481-3del	ENSP00000430075.2:n.481-5_481-3del
NM_000036.2:c.481-5_481-3del	NP_000027.2:n.481-5_481-3del
NM_001172626.1:c.469-5_469-3del	NP_001166097.1:n.469-5_469-3del
NM_000036.3:c.382-5_382-3del MANE Select	NP_000027.3:n.382-5_382-3del
NM_001172626.2:c.370-5_370-3del	NP_001166097.2:n.370-5_370-3del