Canonical Allele Identifier: CA525418426

Gene: AMPD1

Linked Data

• dbSNP Id: rs1557969566
• gnomAD v2: 1-115220458-C-CCTTCCTTCCTTCCTTCCTTT
• gnomAD v3: 1-114677837-C-CCTTCCTTCCTTCCTTCCTTT
• gnomAD v4: 1-114677837-C-CCTTCCTTCCTTCCTTCCTTT
• MyVariant Identifiers: chr1:g.115220458_115220459insCTTCCTTCCTTCCTTCCTTT (hg19) ; chr1:g.114677837_114677838insCTTCCTTCCTTCCTTCCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677853_114677854insCTTTCTTCCTTCCTTCCTTC , CM000663.2:g.114677853_114677854insCTTTCTTCCTTCCTTCCTTC	GRCh38
NC_000001.10:g.115220474_115220475insCTTTCTTCCTTCCTTCCTTC , CM000663.1:g.115220474_115220475insCTTTCTTCCTTCCTTCCTTC	GRCh37
NC_000001.9:g.115021997_115021998insCTTTCTTCCTTCCTTCCTTC	NCBI36
NG_008012.1:g.22718_22719insAAAGGAAGGAAGGAAGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+72_1212+73insAAAGGAAGGAAGGAAGGAAG	ENSP00000358551.4:n.1212+72_1212+73insAAAGGAAGGAAGGAAGGAAG
ENST00000520113.7:c.1224+72_1224+73insAAAGGAAGGAAGGAAGGAAG MANE Select	ENSP00000430075.3:n.1224+72_1224+73insAAAGGAAGGAAGGAAGGAAG
ENST00000637080.1:c.1007+72_1007+73insAAAGGAAGGAAGGAAGGAAG	ENSP00000489753.1:n.1007+72_1007+73insAAAGGAAGGAAGGAAGGAAG
ENST00000639077.1:n.889+72_889+73insAAAGGAAGGAAGGAAGGAAG
ENST00000369538.3:c.1311+72_1311+73insAAAGGAAGGAAGGAAGGAAG	ENSP00000358551.3:n.1311+72_1311+73insAAAGGAAGGAAGGAAGGAAG
ENST00000520113.6:c.1323+72_1323+73insAAAGGAAGGAAGGAAGGAAG	ENSP00000430075.2:n.1323+72_1323+73insAAAGGAAGGAAGGAAGGAAG
NM_000036.2:c.1323+72_1323+73insAAAGGAAGGAAGGAAGGAAG	NP_000027.2:n.1323+72_1323+73insAAAGGAAGGAAGGAAGGAAG
NM_001172626.1:c.1311+72_1311+73insAAAGGAAGGAAGGAAGGAAG	NP_001166097.1:n.1311+72_1311+73insAAAGGAAGGAAGGAAGGAAG
NM_000036.3:c.1224+72_1224+73insAAAGGAAGGAAGGAAGGAAG MANE Select	NP_000027.3:n.1224+72_1224+73insAAAGGAAGGAAGGAAGGAAG
NM_001172626.2:c.1212+72_1212+73insAAAGGAAGGAAGGAAGGAAG	NP_001166097.2:n.1212+72_1212+73insAAAGGAAGGAAGGAAGGAAG