Canonical Allele Identifier: CA525418369

Gene: AMPD1

Linked Data

• gnomAD v2: 1-115220391-CTCCCTTCCTTCCTTCTTTCCCTCTCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT-C
• gnomAD v3: 1-114677770-CTCCCTTCCTTCCTTCTTTCCCTCTCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT-C
• gnomAD v4: 1-114677770-CTCCCTTCCTTCCTTCTTTCCCTCTCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT-C
• MyVariant Identifiers: chr1:g.115220392_115220460del (hg19) ; chr1:g.114677771_114677839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677774_114677842del , CM000663.2:g.114677774_114677842del	GRCh38
NC_000001.10:g.115220395_115220463del , CM000663.1:g.115220395_115220463del	GRCh37
NC_000001.9:g.115021918_115021986del	NCBI36
NG_008012.1:g.22717_22785del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+71_1212+139del	ENSP00000358551.4:n.1212+71_1212+139del
ENST00000520113.7:c.1224+71_1224+139del MANE Select	ENSP00000430075.3:n.1224+71_1224+139del
ENST00000637080.1:c.1007+71_1007+139del	ENSP00000489753.1:n.1007+71_1007+139del
ENST00000639077.1:n.889+71_889+139del
ENST00000369538.3:c.1311+71_1311+139del	ENSP00000358551.3:n.1311+71_1311+139del
ENST00000520113.6:c.1323+71_1323+139del	ENSP00000430075.2:n.1323+71_1323+139del
NM_000036.2:c.1323+71_1323+139del	NP_000027.2:n.1323+71_1323+139del
NM_001172626.1:c.1311+71_1311+139del	NP_001166097.1:n.1311+71_1311+139del
NM_000036.3:c.1224+71_1224+139del MANE Select	NP_000027.3:n.1224+71_1224+139del
NM_001172626.2:c.1212+71_1212+139del	NP_001166097.2:n.1212+71_1212+139del