Canonical Allele Identifier: CA525418366

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658034790
• gnomAD v2: 1-115220388-TCC-T
• gnomAD v3: 1-114677767-TCC-T
• gnomAD v4: 1-114677767-TCC-T
• MyVariant Identifiers: chr1:g.115220389_115220390del (hg19) ; chr1:g.114677768_114677769del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677769_114677770del , CM000663.2:g.114677769_114677770del	GRCh38
NC_000001.10:g.115220390_115220391del , CM000663.1:g.115220390_115220391del	GRCh37
NC_000001.9:g.115021913_115021914del	NCBI36
NG_008012.1:g.22787_22788del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+141_1212+142del	ENSP00000358551.4:n.1212+141_1212+142del
ENST00000520113.7:c.1224+141_1224+142del MANE Select	ENSP00000430075.3:n.1224+141_1224+142del
ENST00000637080.1:c.1007+141_1007+142del	ENSP00000489753.1:n.1007+141_1007+142del
ENST00000639077.1:n.889+141_889+142del
ENST00000369538.3:c.1311+141_1311+142del	ENSP00000358551.3:n.1311+141_1311+142del
ENST00000520113.6:c.1323+141_1323+142del	ENSP00000430075.2:n.1323+141_1323+142del
NM_000036.2:c.1323+141_1323+142del	NP_000027.2:n.1323+141_1323+142del
NM_001172626.1:c.1311+141_1311+142del	NP_001166097.1:n.1311+141_1311+142del
NM_000036.3:c.1224+141_1224+142del MANE Select	NP_000027.3:n.1224+141_1224+142del
NM_001172626.2:c.1212+141_1212+142del	NP_001166097.2:n.1212+141_1212+142del