Canonical Allele Identifier: CA2745133618

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677776_114677777insGACACAGAGAAGA , CM000663.2:g.114677776_114677777insGACACAGAGAAGA	GRCh38
NC_000001.10:g.115220397_115220398insGACACAGAGAAGA , CM000663.1:g.115220397_115220398insGACACAGAGAAGA	GRCh37
NC_000001.9:g.115021920_115021921insGACACAGAGAAGA	NCBI36
NG_008012.1:g.22779_22780insTCTTCTCTGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+133_1212+134insTCTTCTCTGTGTC	ENSP00000358551.4:n.1212+133_1212+134insTCTTCTCTGTGTC
ENST00000520113.7:c.1224+133_1224+134insTCTTCTCTGTGTC MANE Select	ENSP00000430075.3:n.1224+133_1224+134insTCTTCTCTGTGTC
ENST00000637080.1:c.1007+133_1007+134insTCTTCTCTGTGTC	ENSP00000489753.1:n.1007+133_1007+134insTCTTCTCTGTGTC
ENST00000639077.1:n.889+133_889+134insTCTTCTCTGTGTC
ENST00000369538.3:c.1311+133_1311+134insTCTTCTCTGTGTC	ENSP00000358551.3:n.1311+133_1311+134insTCTTCTCTGTGTC
ENST00000520113.6:c.1323+133_1323+134insTCTTCTCTGTGTC	ENSP00000430075.2:n.1323+133_1323+134insTCTTCTCTGTGTC
NM_000036.2:c.1323+133_1323+134insTCTTCTCTGTGTC	NP_000027.2:n.1323+133_1323+134insTCTTCTCTGTGTC
NM_001172626.1:c.1311+133_1311+134insTCTTCTCTGTGTC	NP_001166097.1:n.1311+133_1311+134insTCTTCTCTGTGTC
NM_000036.3:c.1224+133_1224+134insTCTTCTCTGTGTC MANE Select	NP_000027.3:n.1224+133_1224+134insTCTTCTCTGTGTC
NM_001172626.2:c.1212+133_1212+134insTCTTCTCTGTGTC	NP_001166097.2:n.1212+133_1212+134insTCTTCTCTGTGTC