Canonical Allele Identifier: CA1190276448

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677783_114677799delinsTTCTTTCCCTCTCTCCC , CM000663.2:g.114677783_114677799delinsTTCTTTCCCTCTCTCCC	GRCh38
NC_000001.10:g.115220404_115220420delinsTTCTTTCCCTCTCTCCC , CM000663.1:g.115220404_115220420delinsTTCTTTCCCTCTCTCCC	GRCh37
NC_000001.9:g.115021927_115021943delinsTTCTTTCCCTCTCTCCC	NCBI36
NG_008012.1:g.22757_22773delinsGGGAGAGAGGGAAAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+111_1212+127delinsGGGAGAGAGGGAAAGAA	ENSP00000358551.4:n.1212+111_1212+127deli...
ENST00000520113.7:c.1224+111_1224+127delinsGGGAGAGAGGGAAAGAA MANE Select	ENSP00000430075.3:n.1224+111_1224+127deli...
ENST00000637080.1:c.1007+111_1007+127delinsGGGAGAGAGGGAAAGAA	ENSP00000489753.1:n.1007+111_1007+127deli...
ENST00000639077.1:n.889+111_889+127delinsGGGAGAGAGGGAAAGAA
ENST00000369538.3:c.1311+111_1311+127delinsGGGAGAGAGGGAAAGAA	ENSP00000358551.3:n.1311+111_1311+127deli...
ENST00000520113.6:c.1323+111_1323+127delinsGGGAGAGAGGGAAAGAA	ENSP00000430075.2:n.1323+111_1323+127deli...
NM_000036.2:c.1323+111_1323+127delinsGGGAGAGAGGGAAAGAA	NP_000027.2:n.1323+111_1323+127delinsGGGA...
NM_001172626.1:c.1311+111_1311+127delinsGGGAGAGAGGGAAAGAA	NP_001166097.1:n.1311+111_1311+127delinsG...
NM_000036.3:c.1224+111_1224+127delinsGGGAGAGAGGGAAAGAA MANE Select	NP_000027.3:n.1224+111_1224+127delinsGGGA...
NM_001172626.2:c.1212+111_1212+127delinsGGGAGAGAGGGAAAGAA	NP_001166097.2:n.1212+111_1212+127delinsG...