Canonical Allele Identifier: CA525418377
Gene: AMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1171158884
gnomAD v2: 1-115220393-C-CCCTT
gnomAD v3: 1-114677772-C-CCCTT
gnomAD v4: 1-114677772-C-CCCTT
MyVariant Identifiers: chr1:g.115220396_115220397insTCCT (hg19) chr1:g.115220393_115220394insCCTT (hg19) chr1:g.114677775_114677776insTCCT (hg38) chr1:g.114677772_114677773insCCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677782_114677785dup , CM000663.2:g.114677782_114677785dup GRCh38
NC_000001.10:g.115220403_115220406dup , CM000663.1:g.115220403_115220406dup GRCh37
NC_000001.9:g.115021926_115021929dup NCBI36
NG_008012.1:g.22780_22783dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1212+134_1212+137dup ENSP00000358551.4:n.1212+134_1212+137dup
ENST00000520113.7:c.1224+134_1224+137dup MANE Select ENSP00000430075.3:n.1224+134_1224+137dup
ENST00000637080.1:c.1007+134_1007+137dup ENSP00000489753.1:n.1007+134_1007+137dup
ENST00000639077.1:n.889+134_889+137dup
ENST00000369538.3:c.1311+134_1311+137dup ENSP00000358551.3:n.1311+134_1311+137dup
ENST00000520113.6:c.1323+134_1323+137dup ENSP00000430075.2:n.1323+134_1323+137dup
NM_000036.2:c.1323+134_1323+137dup NP_000027.2:n.1323+134_1323+137dup
NM_001172626.1:c.1311+134_1311+137dup NP_001166097.1:n.1311+134_1311+137dup
NM_000036.3:c.1224+134_1224+137dup MANE Select NP_000027.3:n.1224+134_1224+137dup
NM_001172626.2:c.1212+134_1212+137dup NP_001166097.2:n.1212+134_1212+137dup
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