Canonical Allele Identifier: CA2647247472

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677762-CTCCCTCCCTCCCTTCCTTCCTTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677769_114677793del , CM000663.2:g.114677769_114677793del	GRCh38
NC_000001.10:g.115220390_115220414del , CM000663.1:g.115220390_115220414del	GRCh37
NC_000001.9:g.115021913_115021937del	NCBI36
NG_008012.1:g.22769_22793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+123_1212+147del	ENSP00000358551.4:n.1212+123_1212+147del
ENST00000520113.7:c.1224+123_1224+147del MANE Select	ENSP00000430075.3:n.1224+123_1224+147del
ENST00000637080.1:c.1007+123_1007+147del	ENSP00000489753.1:n.1007+123_1007+147del
ENST00000639077.1:n.889+123_889+147del
ENST00000369538.3:c.1311+123_1311+147del	ENSP00000358551.3:n.1311+123_1311+147del
ENST00000520113.6:c.1323+123_1323+147del	ENSP00000430075.2:n.1323+123_1323+147del
NM_000036.2:c.1323+123_1323+147del	NP_000027.2:n.1323+123_1323+147del
NM_001172626.1:c.1311+123_1311+147del	NP_001166097.1:n.1311+123_1311+147del
NM_000036.3:c.1224+123_1224+147del MANE Select	NP_000027.3:n.1224+123_1224+147del
NM_001172626.2:c.1212+123_1212+147del	NP_001166097.2:n.1212+123_1212+147del