Canonical Allele Identifier: CA525418407

Gene: AMPD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677817_114677818insTTTCCTTCCTTCCTTC , CM000663.2:g.114677817_114677818insTTTCCTTCCTTCCTTC	GRCh38
NC_000001.10:g.115220438_115220439insTTTCCTTCCTTCCTTC , CM000663.1:g.115220438_115220439insTTTCCTTCCTTCCTTC	GRCh37
NC_000001.9:g.115021961_115021962insTTTCCTTCCTTCCTTC	NCBI36
NG_008012.1:g.22753_22754insAGAAGGAAGGAAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+107_1212+108insAGAAGGAAGGAAGGAA	ENSP00000358551.4:n.1212+107_1212+108insAGAAGGAAGGAAGGAA
ENST00000520113.7:c.1224+107_1224+108insAGAAGGAAGGAAGGAA MANE Select	ENSP00000430075.3:n.1224+107_1224+108insAGAAGGAAGGAAGGAA
ENST00000637080.1:c.1007+107_1007+108insAGAAGGAAGGAAGGAA	ENSP00000489753.1:n.1007+107_1007+108insAGAAGGAAGGAAGGAA
ENST00000639077.1:n.889+107_889+108insAGAAGGAAGGAAGGAA
ENST00000369538.3:c.1311+107_1311+108insAGAAGGAAGGAAGGAA	ENSP00000358551.3:n.1311+107_1311+108insAGAAGGAAGGAAGGAA
ENST00000520113.6:c.1323+107_1323+108insAGAAGGAAGGAAGGAA	ENSP00000430075.2:n.1323+107_1323+108insAGAAGGAAGGAAGGAA
NM_000036.2:c.1323+107_1323+108insAGAAGGAAGGAAGGAA	NP_000027.2:n.1323+107_1323+108insAGAAGGAAGGAAGGAA
NM_001172626.1:c.1311+107_1311+108insAGAAGGAAGGAAGGAA	NP_001166097.1:n.1311+107_1311+108insAGAAGGAAGGAAGGAA
NM_000036.3:c.1224+107_1224+108insAGAAGGAAGGAAGGAA MANE Select	NP_000027.3:n.1224+107_1224+108insAGAAGGAAGGAAGGAA
NM_001172626.2:c.1212+107_1212+108insAGAAGGAAGGAAGGAA	NP_001166097.2:n.1212+107_1212+108insAGAAGGAAGGAAGGAA