Canonical Allele Identifier: CA525418430

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658044946
• gnomAD v2: 1-115220468-T-TTCCTTCCTTCCA
• gnomAD v3: 1-114677847-T-TTCCTTCCTTCCA
• gnomAD v4: 1-114677847-T-TTCCTTCCTTCCA
• MyVariant Identifiers: chr1:g.115220468_115220469insTCCTTCCTTCCA (hg19) ; chr1:g.114677847_114677848insTCCTTCCTTCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677853_114677854insCTTCCATCCTTC , CM000663.2:g.114677853_114677854insCTTCCATCCTTC	GRCh38
NC_000001.10:g.115220474_115220475insCTTCCATCCTTC , CM000663.1:g.115220474_115220475insCTTCCATCCTTC	GRCh37
NC_000001.9:g.115021997_115021998insCTTCCATCCTTC	NCBI36
NG_008012.1:g.22708_22709insTGGAAGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+62_1212+63insTGGAAGGAAGGA	ENSP00000358551.4:n.1212+62_1212+63insTGGAAGGAAGGA
ENST00000520113.7:c.1224+62_1224+63insTGGAAGGAAGGA MANE Select	ENSP00000430075.3:n.1224+62_1224+63insTGGAAGGAAGGA
ENST00000637080.1:c.1007+62_1007+63insTGGAAGGAAGGA	ENSP00000489753.1:n.1007+62_1007+63insTGGAAGGAAGGA
ENST00000639077.1:n.889+62_889+63insTGGAAGGAAGGA
ENST00000369538.3:c.1311+62_1311+63insTGGAAGGAAGGA	ENSP00000358551.3:n.1311+62_1311+63insTGGAAGGAAGGA
ENST00000520113.6:c.1323+62_1323+63insTGGAAGGAAGGA	ENSP00000430075.2:n.1323+62_1323+63insTGGAAGGAAGGA
NM_000036.2:c.1323+62_1323+63insTGGAAGGAAGGA	NP_000027.2:n.1323+62_1323+63insTGGAAGGAAGGA
NM_001172626.1:c.1311+62_1311+63insTGGAAGGAAGGA	NP_001166097.1:n.1311+62_1311+63insTGGAAGGAAGGA
NM_000036.3:c.1224+62_1224+63insTGGAAGGAAGGA MANE Select	NP_000027.3:n.1224+62_1224+63insTGGAAGGAAGGA
NM_001172626.2:c.1212+62_1212+63insTGGAAGGAAGGA	NP_001166097.2:n.1212+62_1212+63insTGGAAGGAAGGA