Canonical Allele Identifier: CA1190276464

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677794_114677798delinsTCTCC , CM000663.2:g.114677794_114677798delinsTCTCC	GRCh38
NC_000001.10:g.115220415_115220419delinsTCTCC , CM000663.1:g.115220415_115220419delinsTCTCC	GRCh37
NC_000001.9:g.115021938_115021942delinsTCTCC	NCBI36
NG_008012.1:g.22758_22762delinsGGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+112_1212+116delinsGGAGA	ENSP00000358551.4:n.1212+112_1212+116deli...
ENST00000520113.7:c.1224+112_1224+116delinsGGAGA MANE Select	ENSP00000430075.3:n.1224+112_1224+116deli...
ENST00000637080.1:c.1007+112_1007+116delinsGGAGA	ENSP00000489753.1:n.1007+112_1007+116deli...
ENST00000639077.1:n.889+112_889+116delinsGGAGA
ENST00000369538.3:c.1311+112_1311+116delinsGGAGA	ENSP00000358551.3:n.1311+112_1311+116deli...
ENST00000520113.6:c.1323+112_1323+116delinsGGAGA	ENSP00000430075.2:n.1323+112_1323+116deli...
NM_000036.2:c.1323+112_1323+116delinsGGAGA	NP_000027.2:n.1323+112_1323+116delinsGGAG...
NM_001172626.1:c.1311+112_1311+116delinsGGAGA	NP_001166097.1:n.1311+112_1311+116delinsG...
NM_000036.3:c.1224+112_1224+116delinsGGAGA MANE Select	NP_000027.3:n.1224+112_1224+116delinsGGAG...
NM_001172626.2:c.1212+112_1212+116delinsGGAGA	NP_001166097.2:n.1212+112_1212+116delinsG...