Canonical Allele Identifier: CA1140719242

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677800_114677853delinsTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC , CM000663.2:g.114677800_114677853delinsTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	GRCh38
NC_000001.10:g.115220421_115220474delinsTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC , CM000663.1:g.115220421_115220474delinsTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	GRCh37
NC_000001.9:g.115021944_115021997delinsTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	NCBI36
NG_008012.1:g.22703_22756delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+57_1212+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ENSP00000358551.4:n.1212+57_1212+110delinsGAAGGAAGGAAGGAAGGAA...
ENST00000520113.7:c.1224+57_1224+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA MANE Select	ENSP00000430075.3:n.1224+57_1224+110delinsGAAGGAAGGAAGGAAGGAA...
ENST00000637080.1:c.1007+57_1007+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ENSP00000489753.1:n.1007+57_1007+110delinsGAAGGAAGGAAGGAAGGAA...
ENST00000639077.1:n.889+57_889+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA
ENST00000369538.3:c.1311+57_1311+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ENSP00000358551.3:n.1311+57_1311+110delinsGAAGGAAGGAAGGAAGGAA...
ENST00000520113.6:c.1323+57_1323+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ENSP00000430075.2:n.1323+57_1323+110delinsGAAGGAAGGAAGGAAGGAA...
NM_000036.2:c.1323+57_1323+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	NP_000027.2:n.1323+57_1323+110delinsGAAGGAAGGAAGGAAGGAAGGAAGG...
NM_001172626.1:c.1311+57_1311+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	NP_001166097.1:n.1311+57_1311+110delinsGAAGGAAGGAAGGAAGGAAGGA...
NM_000036.3:c.1224+57_1224+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA MANE Select	NP_000027.3:n.1224+57_1224+110delinsGAAGGAAGGAAGGAAGGAAGGAAGG...
NM_001172626.2:c.1212+57_1212+110delinsGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	NP_001166097.2:n.1212+57_1212+110delinsGAAGGAAGGAAGGAAGGAAGGA...