Canonical Allele Identifier: CA1190276451

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677784_114677789delinsTCTTTC , CM000663.2:g.114677784_114677789delinsTCTTTC	GRCh38
NC_000001.10:g.115220405_115220410delinsTCTTTC , CM000663.1:g.115220405_115220410delinsTCTTTC	GRCh37
NC_000001.9:g.115021928_115021933delinsTCTTTC	NCBI36
NG_008012.1:g.22767_22772delinsGAAAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+121_1212+126delinsGAAAGA	ENSP00000358551.4:n.1212+121_1212+126deli...
ENST00000520113.7:c.1224+121_1224+126delinsGAAAGA MANE Select	ENSP00000430075.3:n.1224+121_1224+126deli...
ENST00000637080.1:c.1007+121_1007+126delinsGAAAGA	ENSP00000489753.1:n.1007+121_1007+126deli...
ENST00000639077.1:n.889+121_889+126delinsGAAAGA
ENST00000369538.3:c.1311+121_1311+126delinsGAAAGA	ENSP00000358551.3:n.1311+121_1311+126deli...
ENST00000520113.6:c.1323+121_1323+126delinsGAAAGA	ENSP00000430075.2:n.1323+121_1323+126deli...
NM_000036.2:c.1323+121_1323+126delinsGAAAGA	NP_000027.2:n.1323+121_1323+126delinsGAAA...
NM_001172626.1:c.1311+121_1311+126delinsGAAAGA	NP_001166097.1:n.1311+121_1311+126delinsG...
NM_000036.3:c.1224+121_1224+126delinsGAAAGA MANE Select	NP_000027.3:n.1224+121_1224+126delinsGAAA...
NM_001172626.2:c.1212+121_1212+126delinsGAAAGA	NP_001166097.2:n.1212+121_1212+126delinsG...