Canonical Allele Identifier: CA1190276458

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677790_114677794delinsCCTCT , CM000663.2:g.114677790_114677794delinsCCTCT	GRCh38
NC_000001.10:g.115220411_115220415delinsCCTCT , CM000663.1:g.115220411_115220415delinsCCTCT	GRCh37
NC_000001.9:g.115021934_115021938delinsCCTCT	NCBI36
NG_008012.1:g.22762_22766delinsAGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+116_1212+120delinsAGAGG	ENSP00000358551.4:n.1212+116_1212+120deli...
ENST00000520113.7:c.1224+116_1224+120delinsAGAGG MANE Select	ENSP00000430075.3:n.1224+116_1224+120deli...
ENST00000637080.1:c.1007+116_1007+120delinsAGAGG	ENSP00000489753.1:n.1007+116_1007+120deli...
ENST00000639077.1:n.889+116_889+120delinsAGAGG
ENST00000369538.3:c.1311+116_1311+120delinsAGAGG	ENSP00000358551.3:n.1311+116_1311+120deli...
ENST00000520113.6:c.1323+116_1323+120delinsAGAGG	ENSP00000430075.2:n.1323+116_1323+120deli...
NM_000036.2:c.1323+116_1323+120delinsAGAGG	NP_000027.2:n.1323+116_1323+120delinsAGAG...
NM_001172626.1:c.1311+116_1311+120delinsAGAGG	NP_001166097.1:n.1311+116_1311+120delinsA...
NM_000036.3:c.1224+116_1224+120delinsAGAGG MANE Select	NP_000027.3:n.1224+116_1224+120delinsAGAG...
NM_001172626.2:c.1212+116_1212+120delinsAGAGG	NP_001166097.2:n.1212+116_1212+120delinsA...