Canonical Allele Identifier: CA2745133802

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684412_114684413insACCAAACACACCCAACACA , CM000663.2:g.114684412_114684413insACCAAACACACCCAACACA	GRCh38
NC_000001.10:g.115227033_115227034insACCAAACACACCCAACACA , CM000663.1:g.115227033_115227034insACCAAACACACCCAACACA	GRCh37
NC_000001.9:g.115028556_115028557insACCAAACACACCCAACACA	NCBI36
NG_008012.1:g.16144_16145insGTGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-48_370-47insGTGTTGGGTGTGTTTGGTT	ENSP00000358551.4:n.370-48_370-47insGTGTTGGGTGTGTTTGGTT
ENST00000520113.7:c.382-48_382-47insGTGTTGGGTGTGTTTGGTT MANE Select	ENSP00000430075.3:n.382-48_382-47insGTGTTGGGTGTGTTTGGTT
ENST00000637080.1:c.385-48_385-47insGTGTTGGGTGTGTTTGGTT	ENSP00000489753.1:n.385-48_385-47insGTGTTGGGTGTGTTTGGTT
ENST00000639077.1:n.46+32_46+33insGTGTTGGGTGTGTTTGGTT
ENST00000369538.3:c.469-48_469-47insGTGTTGGGTGTGTTTGGTT	ENSP00000358551.3:n.469-48_469-47insGTGTTGGGTGTGTTTGGTT
ENST00000485564.3:n.256-48_256-47insGTGTTGGGTGTGTTTGGTT
ENST00000520113.6:c.481-48_481-47insGTGTTGGGTGTGTTTGGTT	ENSP00000430075.2:n.481-48_481-47insGTGTTGGGTGTGTTTGGTT
NM_000036.2:c.481-48_481-47insGTGTTGGGTGTGTTTGGTT	NP_000027.2:n.481-48_481-47insGTGTTGGGTGTGTTTGGTT
NM_001172626.1:c.469-48_469-47insGTGTTGGGTGTGTTTGGTT	NP_001166097.1:n.469-48_469-47insGTGTTGGGTGTGTTTGGTT
NM_000036.3:c.382-48_382-47insGTGTTGGGTGTGTTTGGTT MANE Select	NP_000027.3:n.382-48_382-47insGTGTTGGGTGTGTTTGGTT
NM_001172626.2:c.370-48_370-47insGTGTTGGGTGTGTTTGGTT	NP_001166097.2:n.370-48_370-47insGTGTTGGGTGTGTTTGGTT