Canonical Allele Identifier: CA2992603644

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677996dup , CM000663.2:g.114677996dup	GRCh38
NC_000001.10:g.115220617dup , CM000663.1:g.115220617dup	GRCh37
NC_000001.9:g.115022140dup	NCBI36
NG_008012.1:g.22561dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1127dup	ENSP00000358551.4:p.Asn376LysfsTer7
ENST00000520113.7:c.1139dup MANE Select	ENSP00000430075.3:p.Asn380LysfsTer7
ENST00000637080.1:c.922dup	ENSP00000489753.1:n.922dup
ENST00000639077.1:n.804dup
ENST00000369538.3:c.1226dup	ENSP00000358551.3:p.Asn409LysfsTer7
ENST00000520113.6:c.1238dup	ENSP00000430075.2:p.Asn413LysfsTer7
NM_000036.2:c.1238dup	NP_000027.2:p.Asn413LysfsTer7
NM_001172626.1:c.1226dup	NP_001166097.1:p.Asn409LysfsTer7
NM_000036.3:c.1139dup MANE Select	NP_000027.3:p.Asn380LysfsTer7
NM_001172626.2:c.1127dup	NP_001166097.2:p.Asn376LysfsTer7