Canonical Allele Identifier: CA525418419

Gene: AMPD1

Linked Data

• dbSNP Id: rs1491196467
• gnomAD v2: 1-115220452-TTC-T
• gnomAD v3: 1-114677831-TTC-T
• gnomAD v4: 1-114677831-TTC-T
• MyVariant Identifiers: chr1:g.115220453_115220454del (hg19) ; chr1:g.114677832_114677833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677832_114677833del , CM000663.2:g.114677832_114677833del	GRCh38
NC_000001.10:g.115220453_115220454del , CM000663.1:g.115220453_115220454del	GRCh37
NC_000001.9:g.115021976_115021977del	NCBI36
NG_008012.1:g.22723_22724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+77_1212+78del	ENSP00000358551.4:n.1212+77_1212+78del
ENST00000520113.7:c.1224+77_1224+78del MANE Select	ENSP00000430075.3:n.1224+77_1224+78del
ENST00000637080.1:c.1007+77_1007+78del	ENSP00000489753.1:n.1007+77_1007+78del
ENST00000639077.1:n.889+77_889+78del
ENST00000369538.3:c.1311+77_1311+78del	ENSP00000358551.3:n.1311+77_1311+78del
ENST00000520113.6:c.1323+77_1323+78del	ENSP00000430075.2:n.1323+77_1323+78del
NM_000036.2:c.1323+77_1323+78del	NP_000027.2:n.1323+77_1323+78del
NM_001172626.1:c.1311+77_1311+78del	NP_001166097.1:n.1311+77_1311+78del
NM_000036.3:c.1224+77_1224+78del MANE Select	NP_000027.3:n.1224+77_1224+78del
NM_001172626.2:c.1212+77_1212+78del	NP_001166097.2:n.1212+77_1212+78del