Canonical Allele Identifier: CA1190281689

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684180_114684181delinsTA , CM000663.2:g.114684180_114684181delinsTA	GRCh38
NC_000001.10:g.115226801_115226802delinsTA , CM000663.1:g.115226801_115226802delinsTA	GRCh37
NC_000001.9:g.115028324_115028325delinsTA	NCBI36
NG_008012.1:g.16375_16376delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.535+18_535+19delinsTA	ENSP00000358551.4:n.535+18_535+19delinsTA
ENST00000520113.7:c.547+18_547+19delinsTA MANE Select	ENSP00000430075.3:n.547+18_547+19delinsTA
ENST00000637080.1:c.550+18_550+19delinsTA	ENSP00000489753.1:n.550+18_550+19delinsTA
ENST00000639077.1:n.212+18_212+19delinsTA
ENST00000369538.3:c.634+18_634+19delinsTA	ENSP00000358551.3:n.634+18_634+19delinsTA
ENST00000485564.3:n.421+18_421+19delinsTA
ENST00000520113.6:c.646+18_646+19delinsTA	ENSP00000430075.2:n.646+18_646+19delinsTA
NM_000036.2:c.646+18_646+19delinsTA	NP_000027.2:n.646+18_646+19delinsTA
NM_001172626.1:c.634+18_634+19delinsTA	NP_001166097.1:n.634+18_634+19delinsTA
NM_000036.3:c.547+18_547+19delinsTA MANE Select	NP_000027.3:n.547+18_547+19delinsTA
NM_001172626.2:c.535+18_535+19delinsTA	NP_001166097.2:n.535+18_535+19delinsTA