Canonical Allele Identifier: CA1190276293

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677414_114677417delinsCAGG , CM000663.2:g.114677414_114677417delinsCAGG	GRCh38
NC_000001.10:g.115220035_115220038delinsCAGG , CM000663.1:g.115220035_115220038delinsCAGG	GRCh37
NC_000001.9:g.115021558_115021561delinsCAGG	NCBI36
NG_008012.1:g.23139_23142delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1310_1313delinsCCTG	ENSP00000358551.4:p.Ser437=
ENST00000520113.7:c.1322_1325delinsCCTG MANE Select	ENSP00000430075.3:p.Ser441=
ENST00000637080.1:c.1105_1108delinsCCTG	ENSP00000489753.1:n.1105_1108delinsCCTG
ENST00000639077.1:n.987_990delinsCCTG
ENST00000369538.3:c.1409_1412delinsCCTG	ENSP00000358551.3:p.Ser470=
ENST00000520113.6:c.1421_1424delinsCCTG	ENSP00000430075.2:p.Ser474=
NM_000036.2:c.1421_1424delinsCCTG	NP_000027.2:p.Ser474=
NM_001172626.1:c.1409_1412delinsCCTG	NP_001166097.1:p.Ser470=
NM_000036.3:c.1322_1325delinsCCTG MANE Select	NP_000027.3:p.Ser441=
NM_001172626.2:c.1310_1313delinsCCTG	NP_001166097.2:p.Ser437=