Canonical Allele Identifier: CA2647247995

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677822-C-CTTCCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677829_114677830insTTTCCTTC , CM000663.2:g.114677829_114677830insTTTCCTTC	GRCh38
NC_000001.10:g.115220450_115220451insTTTCCTTC , CM000663.1:g.115220450_115220451insTTTCCTTC	GRCh37
NC_000001.9:g.115021973_115021974insTTTCCTTC	NCBI36
NG_008012.1:g.22733_22734insAGAAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+87_1212+88insAGAAGGAA	ENSP00000358551.4:n.1212+87_1212+88insAGAAGGAA
ENST00000520113.7:c.1224+87_1224+88insAGAAGGAA MANE Select	ENSP00000430075.3:n.1224+87_1224+88insAGAAGGAA
ENST00000637080.1:c.1007+87_1007+88insAGAAGGAA	ENSP00000489753.1:n.1007+87_1007+88insAGAAGGAA
ENST00000639077.1:n.889+87_889+88insAGAAGGAA
ENST00000369538.3:c.1311+87_1311+88insAGAAGGAA	ENSP00000358551.3:n.1311+87_1311+88insAGAAGGAA
ENST00000520113.6:c.1323+87_1323+88insAGAAGGAA	ENSP00000430075.2:n.1323+87_1323+88insAGAAGGAA
NM_000036.2:c.1323+87_1323+88insAGAAGGAA	NP_000027.2:n.1323+87_1323+88insAGAAGGAA
NM_001172626.1:c.1311+87_1311+88insAGAAGGAA	NP_001166097.1:n.1311+87_1311+88insAGAAGGAA
NM_000036.3:c.1224+87_1224+88insAGAAGGAA MANE Select	NP_000027.3:n.1224+87_1224+88insAGAAGGAA
NM_001172626.2:c.1212+87_1212+88insAGAAGGAA	NP_001166097.2:n.1212+87_1212+88insAGAAGGAA