Canonical Allele Identifier: CA1006000476

Gene: AMPD1

Linked Data

• gnomAD v3: 1-114679625-T-TTAAAAAA
• gnomAD v4: 1-114679625-T-TTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679626_114679627insAAAAAAT , CM000663.2:g.114679626_114679627insAAAAAAT	GRCh38
NC_000001.10:g.115222247_115222248insAAAAAAT , CM000663.1:g.115222247_115222248insAAAAAAT	GRCh37
NC_000001.9:g.115023770_115023771insAAAAAAT	NCBI36
NG_008012.1:g.20930_20931insTTTTTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.838_839insTTTTTTA	ENSP00000358551.4:p.Lys280IlefsTer3
ENST00000520113.7:c.850_851insTTTTTTA MANE Select	ENSP00000430075.3:p.Lys284IlefsTer3
ENST00000637080.1:c.633_634insTTTTTTA	ENSP00000489753.1:n.633_634insTTTTTTA
ENST00000639077.1:n.515_516insTTTTTTA
ENST00000369538.3:c.937_938insTTTTTTA	ENSP00000358551.3:p.Lys313IlefsTer3
ENST00000520113.6:c.949_950insTTTTTTA	ENSP00000430075.2:p.Lys317IlefsTer3
NM_000036.2:c.949_950insTTTTTTA	NP_000027.2:p.Lys317IlefsTer3
NM_001172626.1:c.937_938insTTTTTTA	NP_001166097.1:p.Lys313IlefsTer3
NM_000036.3:c.850_851insTTTTTTA MANE Select	NP_000027.3:p.Lys284IlefsTer3
NM_001172626.2:c.838_839insTTTTTTA	NP_001166097.2:p.Lys280IlefsTer3