Canonical Allele Identifier: CA2647248110

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677850-C-CTTCCTTCCTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677853_114677854insCTTCCTTCTTTC , CM000663.2:g.114677853_114677854insCTTCCTTCTTTC	GRCh38
NC_000001.10:g.115220474_115220475insCTTCCTTCTTTC , CM000663.1:g.115220474_115220475insCTTCCTTCTTTC	GRCh37
NC_000001.9:g.115021997_115021998insCTTCCTTCTTTC	NCBI36
NG_008012.1:g.22705_22706insAGAAGGAAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+59_1212+60insAGAAGGAAGGAA	ENSP00000358551.4:n.1212+59_1212+60insAGAAGGAAGGAA
ENST00000520113.7:c.1224+59_1224+60insAGAAGGAAGGAA MANE Select	ENSP00000430075.3:n.1224+59_1224+60insAGAAGGAAGGAA
ENST00000637080.1:c.1007+59_1007+60insAGAAGGAAGGAA	ENSP00000489753.1:n.1007+59_1007+60insAGAAGGAAGGAA
ENST00000639077.1:n.889+59_889+60insAGAAGGAAGGAA
ENST00000369538.3:c.1311+59_1311+60insAGAAGGAAGGAA	ENSP00000358551.3:n.1311+59_1311+60insAGAAGGAAGGAA
ENST00000520113.6:c.1323+59_1323+60insAGAAGGAAGGAA	ENSP00000430075.2:n.1323+59_1323+60insAGAAGGAAGGAA
NM_000036.2:c.1323+59_1323+60insAGAAGGAAGGAA	NP_000027.2:n.1323+59_1323+60insAGAAGGAAGGAA
NM_001172626.1:c.1311+59_1311+60insAGAAGGAAGGAA	NP_001166097.1:n.1311+59_1311+60insAGAAGGAAGGAA
NM_000036.3:c.1224+59_1224+60insAGAAGGAAGGAA MANE Select	NP_000027.3:n.1224+59_1224+60insAGAAGGAAGGAA
NM_001172626.2:c.1212+59_1212+60insAGAAGGAAGGAA	NP_001166097.2:n.1212+59_1212+60insAGAAGGAAGGAA