Canonical Allele Identifier: CA1190276553

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658044621
• gnomAD v4: 1-114677844-T-TCCTTCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677849_114677850insTTCCCTTC , CM000663.2:g.114677849_114677850insTTCCCTTC	GRCh38
NC_000001.10:g.115220470_115220471insTTCCCTTC , CM000663.1:g.115220470_115220471insTTCCCTTC	GRCh37
NC_000001.9:g.115021993_115021994insTTCCCTTC	NCBI36
NG_008012.1:g.22711_22712insGAAGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+65_1212+66insGAAGAAGG	ENSP00000358551.4:n.1212+65_1212+66insGAAGAAGG
ENST00000520113.7:c.1224+65_1224+66insGAAGAAGG MANE Select	ENSP00000430075.3:n.1224+65_1224+66insGAAGAAGG
ENST00000637080.1:c.1007+65_1007+66insGAAGAAGG	ENSP00000489753.1:n.1007+65_1007+66insGAAGAAGG
ENST00000639077.1:n.889+65_889+66insGAAGAAGG
ENST00000369538.3:c.1311+65_1311+66insGAAGAAGG	ENSP00000358551.3:n.1311+65_1311+66insGAAGAAGG
ENST00000520113.6:c.1323+65_1323+66insGAAGAAGG	ENSP00000430075.2:n.1323+65_1323+66insGAAGAAGG
NM_000036.2:c.1323+65_1323+66insGAAGAAGG	NP_000027.2:n.1323+65_1323+66insGAAGAAGG
NM_001172626.1:c.1311+65_1311+66insGAAGAAGG	NP_001166097.1:n.1311+65_1311+66insGAAGAAGG
NM_000036.3:c.1224+65_1224+66insGAAGAAGG MANE Select	NP_000027.3:n.1224+65_1224+66insGAAGAAGG
NM_001172626.2:c.1212+65_1212+66insGAAGAAGG	NP_001166097.2:n.1212+65_1212+66insGAAGAAGG