Canonical Allele Identifier: CA1190276529

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677831_114677833delinsTTC , CM000663.2:g.114677831_114677833delinsTTC	GRCh38
NC_000001.10:g.115220452_115220454delinsTTC , CM000663.1:g.115220452_115220454delinsTTC	GRCh37
NC_000001.9:g.115021975_115021977delinsTTC	NCBI36
NG_008012.1:g.22723_22725delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+77_1212+79delinsGAA	ENSP00000358551.4:n.1212+77_1212+79delinsGAA
ENST00000520113.7:c.1224+77_1224+79delinsGAA MANE Select	ENSP00000430075.3:n.1224+77_1224+79delinsGAA
ENST00000637080.1:c.1007+77_1007+79delinsGAA	ENSP00000489753.1:n.1007+77_1007+79delinsGAA
ENST00000639077.1:n.889+77_889+79delinsGAA
ENST00000369538.3:c.1311+77_1311+79delinsGAA	ENSP00000358551.3:n.1311+77_1311+79delinsGAA
ENST00000520113.6:c.1323+77_1323+79delinsGAA	ENSP00000430075.2:n.1323+77_1323+79delinsGAA
NM_000036.2:c.1323+77_1323+79delinsGAA	NP_000027.2:n.1323+77_1323+79delinsGAA
NM_001172626.1:c.1311+77_1311+79delinsGAA	NP_001166097.1:n.1311+77_1311+79delinsGAA
NM_000036.3:c.1224+77_1224+79delinsGAA MANE Select	NP_000027.3:n.1224+77_1224+79delinsGAA
NM_001172626.2:c.1212+77_1212+79delinsGAA	NP_001166097.2:n.1212+77_1212+79delinsGAA