Canonical Allele Identifier: CA2647247627

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677802-CTTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677804_114677808del , CM000663.2:g.114677804_114677808del	GRCh38
NC_000001.10:g.115220425_115220429del , CM000663.1:g.115220425_115220429del	GRCh37
NC_000001.9:g.115021948_115021952del	NCBI36
NG_008012.1:g.22749_22753del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+103_1212+107del	ENSP00000358551.4:n.1212+103_1212+107del
ENST00000520113.7:c.1224+103_1224+107del MANE Select	ENSP00000430075.3:n.1224+103_1224+107del
ENST00000637080.1:c.1007+103_1007+107del	ENSP00000489753.1:n.1007+103_1007+107del
ENST00000639077.1:n.889+103_889+107del
ENST00000369538.3:c.1311+103_1311+107del	ENSP00000358551.3:n.1311+103_1311+107del
ENST00000520113.6:c.1323+103_1323+107del	ENSP00000430075.2:n.1323+103_1323+107del
NM_000036.2:c.1323+103_1323+107del	NP_000027.2:n.1323+103_1323+107del
NM_001172626.1:c.1311+103_1311+107del	NP_001166097.1:n.1311+103_1311+107del
NM_000036.3:c.1224+103_1224+107del MANE Select	NP_000027.3:n.1224+103_1224+107del
NM_001172626.2:c.1212+103_1212+107del	NP_001166097.2:n.1212+103_1212+107del