Canonical Allele Identifier: CA2745133616

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677758_114677759insGGGCCG , CM000663.2:g.114677758_114677759insGGGCCG	GRCh38
NC_000001.10:g.115220379_115220380insGGGCCG , CM000663.1:g.115220379_115220380insGGGCCG	GRCh37
NC_000001.9:g.115021902_115021903insGGGCCG	NCBI36
NG_008012.1:g.22797_22798insCGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+151_1212+152insCGGCCC	ENSP00000358551.4:n.1212+151_1212+152insCGGCCC
ENST00000520113.7:c.1224+151_1224+152insCGGCCC MANE Select	ENSP00000430075.3:n.1224+151_1224+152insCGGCCC
ENST00000637080.1:c.1007+151_1007+152insCGGCCC	ENSP00000489753.1:n.1007+151_1007+152insCGGCCC
ENST00000639077.1:n.889+151_889+152insCGGCCC
ENST00000369538.3:c.1311+151_1311+152insCGGCCC	ENSP00000358551.3:n.1311+151_1311+152insCGGCCC
ENST00000520113.6:c.1323+151_1323+152insCGGCCC	ENSP00000430075.2:n.1323+151_1323+152insCGGCCC
NM_000036.2:c.1323+151_1323+152insCGGCCC	NP_000027.2:n.1323+151_1323+152insCGGCCC
NM_001172626.1:c.1311+151_1311+152insCGGCCC	NP_001166097.1:n.1311+151_1311+152insCGGCCC
NM_000036.3:c.1224+151_1224+152insCGGCCC MANE Select	NP_000027.3:n.1224+151_1224+152insCGGCCC
NM_001172626.2:c.1212+151_1212+152insCGGCCC	NP_001166097.2:n.1212+151_1212+152insCGGCCC