Canonical Allele Identifier: CA1005999633

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658044433
• gnomAD v3: 1-114677843-TTCC-T
• gnomAD v4: 1-114677843-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677845_114677847del , CM000663.2:g.114677845_114677847del	GRCh38
NC_000001.10:g.115220466_115220468del , CM000663.1:g.115220466_115220468del	GRCh37
NC_000001.9:g.115021989_115021991del	NCBI36
NG_008012.1:g.22710_22712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+64_1212+66del	ENSP00000358551.4:n.1212+64_1212+66del
ENST00000520113.7:c.1224+64_1224+66del MANE Select	ENSP00000430075.3:n.1224+64_1224+66del
ENST00000637080.1:c.1007+64_1007+66del	ENSP00000489753.1:n.1007+64_1007+66del
ENST00000639077.1:n.889+64_889+66del
ENST00000369538.3:c.1311+64_1311+66del	ENSP00000358551.3:n.1311+64_1311+66del
ENST00000520113.6:c.1323+64_1323+66del	ENSP00000430075.2:n.1323+64_1323+66del
NM_000036.2:c.1323+64_1323+66del	NP_000027.2:n.1323+64_1323+66del
NM_001172626.1:c.1311+64_1311+66del	NP_001166097.1:n.1311+64_1311+66del
NM_000036.3:c.1224+64_1224+66del MANE Select	NP_000027.3:n.1224+64_1224+66del
NM_001172626.2:c.1212+64_1212+66del	NP_001166097.2:n.1212+64_1212+66del