Canonical Allele Identifier: CA29054958

Gene: AMPD1

Linked Data

• dbSNP Id: rs879844274
• gnomAD v2: 1-115220419-C-CTT
• gnomAD v3: 1-114677798-C-CTT
• gnomAD v4: 1-114677798-C-CTT
• MyVariant Identifiers: chr1:g.115220419_115220420insTT (hg19) ; chr1:g.114677798_114677799insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677798_114677799insTT , CM000663.2:g.114677798_114677799insTT	GRCh38
NC_000001.10:g.115220419_115220420insTT , CM000663.1:g.115220419_115220420insTT	GRCh37
NC_000001.9:g.115021942_115021943insTT	NCBI36
NG_008012.1:g.22757_22758insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+111_1212+112insAA	ENSP00000358551.4:n.1212+111_1212+112insAA
ENST00000520113.7:c.1224+111_1224+112insAA MANE Select	ENSP00000430075.3:n.1224+111_1224+112insAA
ENST00000637080.1:c.1007+111_1007+112insAA	ENSP00000489753.1:n.1007+111_1007+112insAA
ENST00000639077.1:n.889+111_889+112insAA
ENST00000369538.3:c.1311+111_1311+112insAA	ENSP00000358551.3:n.1311+111_1311+112insAA
ENST00000520113.6:c.1323+111_1323+112insAA	ENSP00000430075.2:n.1323+111_1323+112insAA
NM_000036.2:c.1323+111_1323+112insAA	NP_000027.2:n.1323+111_1323+112insAA
NM_001172626.1:c.1311+111_1311+112insAA	NP_001166097.1:n.1311+111_1311+112insAA
NM_000036.3:c.1224+111_1224+112insAA MANE Select	NP_000027.3:n.1224+111_1224+112insAA
NM_001172626.2:c.1212+111_1212+112insAA	NP_001166097.2:n.1212+111_1212+112insAA