Canonical Allele Identifier: CA2548749248

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693332_114693333insTTTATTTATTTATTTATTTATTTATTTATTT , CM000663.2:g.114693332_114693333insTTTATTTATTTATTTATTTATTTATTTATTT	GRCh38
NC_000001.10:g.115235953_115235954insTTTATTTATTTATTTATTTATTTATTTATTT , CM000663.1:g.115235953_115235954insTTTATTTATTTATTTATTTATTTATTTATTT	GRCh37
NC_000001.9:g.115037476_115037477insTTTATTTATTTATTTATTTATTTATTTATTT	NCBI36
NG_008012.1:g.7223_7224insAAATAAATAAATAAATAAATAAATAAATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.22+2117_22+2118insAAATAAATAAATAAATAAATAAATAAATAAA	ENSP00000358551.4:n.22+2117_22+2118insAAATAAATAAATAAATAAATAAA...
ENST00000520113.7:c.34+103_34+104insAAATAAATAAATAAATAAATAAATAAATAAA MANE Select	ENSP00000430075.3:n.34+103_34+104insAAATAAATAAATAAATAAATAAATA...
ENST00000637080.1:c.37+2104_37+2105insAAATAAATAAATAAATAAATAAATAAATAAA	ENSP00000489753.1:n.37+2104_37+2105insAAATAAATAAATAAATAAATAAA...
ENST00000369538.3:c.121+2117_121+2118insAAATAAATAAATAAATAAATAAATAAATAAA	ENSP00000358551.3:n.121+2117_121+2118insAAATAAATAAATAAATAAATA...
ENST00000520113.6:c.133+103_133+104insAAATAAATAAATAAATAAATAAATAAATAAA	ENSP00000430075.2:n.133+103_133+104insAAATAAATAAATAAATAAATAAA...
NM_000036.2:c.133+103_133+104insAAATAAATAAATAAATAAATAAATAAATAAA	NP_000027.2:n.133+103_133+104insAAATAAATAAATAAATAAATAAATAAATA...
NM_001172626.1:c.121+2117_121+2118insAAATAAATAAATAAATAAATAAATAAATAAA	NP_001166097.1:n.121+2117_121+2118insAAATAAATAAATAAATAAATAAAT...
NM_000036.3:c.34+103_34+104insAAATAAATAAATAAATAAATAAATAAATAAA MANE Select	NP_000027.3:n.34+103_34+104insAAATAAATAAATAAATAAATAAATAAATAAA...
NM_001172626.2:c.22+2117_22+2118insAAATAAATAAATAAATAAATAAATAAATAAA	NP_001166097.2:n.22+2117_22+2118insAAATAAATAAATAAATAAATAAATAA...