Canonical Allele Identifier: CA885812548

Gene: AMPD1

Linked Data

• dbSNP Id: rs61401956
• gnomAD v3: 1-114677799-C-CTCCTTCCTTCCTTCCT
• gnomAD v4: 1-114677799-C-CTCCTTCCTTCCTTCCT
• MyVariant Identifiers: chr1:g.115220420_115220421insTCCTTCCTTCCTTCCT (hg19) ; chr1:g.114677799_114677800insTCCTTCCTTCCTTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677838_114677853dup , CM000663.2:g.114677838_114677853dup	GRCh38
NC_000001.10:g.115220459_115220474dup , CM000663.1:g.115220459_115220474dup	GRCh37
NC_000001.9:g.115021982_115021997dup	NCBI36
NG_008012.1:g.22741_22756dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+95_1212+110dup	ENSP00000358551.4:n.1212+95_1212+110dup
ENST00000520113.7:c.1224+95_1224+110dup MANE Select	ENSP00000430075.3:n.1224+95_1224+110dup
ENST00000637080.1:c.1007+95_1007+110dup	ENSP00000489753.1:n.1007+95_1007+110dup
ENST00000639077.1:n.889+95_889+110dup
ENST00000369538.3:c.1311+95_1311+110dup	ENSP00000358551.3:n.1311+95_1311+110dup
ENST00000520113.6:c.1323+95_1323+110dup	ENSP00000430075.2:n.1323+95_1323+110dup
NM_000036.2:c.1323+95_1323+110dup	NP_000027.2:n.1323+95_1323+110dup
NM_001172626.1:c.1311+95_1311+110dup	NP_001166097.1:n.1311+95_1311+110dup
NM_000036.3:c.1224+95_1224+110dup MANE Select	NP_000027.3:n.1224+95_1224+110dup
NM_001172626.2:c.1212+95_1212+110dup	NP_001166097.2:n.1212+95_1212+110dup