Canonical Allele Identifier: CA2647248034

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677843-T-TTCCTTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677850_114677851insGTCCTTCC , CM000663.2:g.114677850_114677851insGTCCTTCC	GRCh38
NC_000001.10:g.115220471_115220472insGTCCTTCC , CM000663.1:g.115220471_115220472insGTCCTTCC	GRCh37
NC_000001.9:g.115021994_115021995insGTCCTTCC	NCBI36
NG_008012.1:g.22712_22713insCGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+66_1212+67insCGGAAGGA	ENSP00000358551.4:n.1212+66_1212+67insCGGAAGGA
ENST00000520113.7:c.1224+66_1224+67insCGGAAGGA MANE Select	ENSP00000430075.3:n.1224+66_1224+67insCGGAAGGA
ENST00000637080.1:c.1007+66_1007+67insCGGAAGGA	ENSP00000489753.1:n.1007+66_1007+67insCGGAAGGA
ENST00000639077.1:n.889+66_889+67insCGGAAGGA
ENST00000369538.3:c.1311+66_1311+67insCGGAAGGA	ENSP00000358551.3:n.1311+66_1311+67insCGGAAGGA
ENST00000520113.6:c.1323+66_1323+67insCGGAAGGA	ENSP00000430075.2:n.1323+66_1323+67insCGGAAGGA
NM_000036.2:c.1323+66_1323+67insCGGAAGGA	NP_000027.2:n.1323+66_1323+67insCGGAAGGA
NM_001172626.1:c.1311+66_1311+67insCGGAAGGA	NP_001166097.1:n.1311+66_1311+67insCGGAAGGA
NM_000036.3:c.1224+66_1224+67insCGGAAGGA MANE Select	NP_000027.3:n.1224+66_1224+67insCGGAAGGA
NM_001172626.2:c.1212+66_1212+67insCGGAAGGA	NP_001166097.2:n.1212+66_1212+67insCGGAAGGA