Canonical Allele Identifier: CA2647248047

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677846-C-CTTCCTTCCTTCCTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677853_114677854insCTTCCTTCATTCCTTC , CM000663.2:g.114677853_114677854insCTTCCTTCATTCCTTC	GRCh38
NC_000001.10:g.115220474_115220475insCTTCCTTCATTCCTTC , CM000663.1:g.115220474_115220475insCTTCCTTCATTCCTTC	GRCh37
NC_000001.9:g.115021997_115021998insCTTCCTTCATTCCTTC	NCBI36
NG_008012.1:g.22709_22710insTGAAGGAAGGAAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+63_1212+64insTGAAGGAAGGAAGGAA	ENSP00000358551.4:n.1212+63_1212+64insTGAAGGAAGGAAGGAA
ENST00000520113.7:c.1224+63_1224+64insTGAAGGAAGGAAGGAA MANE Select	ENSP00000430075.3:n.1224+63_1224+64insTGAAGGAAGGAAGGAA
ENST00000637080.1:c.1007+63_1007+64insTGAAGGAAGGAAGGAA	ENSP00000489753.1:n.1007+63_1007+64insTGAAGGAAGGAAGGAA
ENST00000639077.1:n.889+63_889+64insTGAAGGAAGGAAGGAA
ENST00000369538.3:c.1311+63_1311+64insTGAAGGAAGGAAGGAA	ENSP00000358551.3:n.1311+63_1311+64insTGAAGGAAGGAAGGAA
ENST00000520113.6:c.1323+63_1323+64insTGAAGGAAGGAAGGAA	ENSP00000430075.2:n.1323+63_1323+64insTGAAGGAAGGAAGGAA
NM_000036.2:c.1323+63_1323+64insTGAAGGAAGGAAGGAA	NP_000027.2:n.1323+63_1323+64insTGAAGGAAGGAAGGAA
NM_001172626.1:c.1311+63_1311+64insTGAAGGAAGGAAGGAA	NP_001166097.1:n.1311+63_1311+64insTGAAGGAAGGAAGGAA
NM_000036.3:c.1224+63_1224+64insTGAAGGAAGGAAGGAA MANE Select	NP_000027.3:n.1224+63_1224+64insTGAAGGAAGGAAGGAA
NM_001172626.2:c.1212+63_1212+64insTGAAGGAAGGAAGGAA	NP_001166097.2:n.1212+63_1212+64insTGAAGGAAGGAAGGAA