Canonical Allele Identifier: CA2647248017

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677832-T-TCCTTCCTTCCTTCCTTCCTTCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677853_114677854insCTCCCTTCCTTCCTTCCTTCCTTC , CM000663.2:g.114677853_114677854insCTCCCTTCCTTCCTTCCTTCCTTC	GRCh38
NC_000001.10:g.115220474_115220475insCTCCCTTCCTTCCTTCCTTCCTTC , CM000663.1:g.115220474_115220475insCTCCCTTCCTTCCTTCCTTCCTTC	GRCh37
NC_000001.9:g.115021997_115021998insCTCCCTTCCTTCCTTCCTTCCTTC	NCBI36
NG_008012.1:g.22723_22724insGAGGAAGGAAGGAAGGAAGGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1212+77_1212+78insGAGGAAGGAAGGAAGGAAGGAAGG	ENSP00000358551.4:n.1212+77_1212+78insGAGGAAGGAAGGAAGGAAGGAAG...
ENST00000520113.7:c.1224+77_1224+78insGAGGAAGGAAGGAAGGAAGGAAGG MANE Select	ENSP00000430075.3:n.1224+77_1224+78insGAGGAAGGAAGGAAGGAAGGAAG...
ENST00000637080.1:c.1007+77_1007+78insGAGGAAGGAAGGAAGGAAGGAAGG	ENSP00000489753.1:n.1007+77_1007+78insGAGGAAGGAAGGAAGGAAGGAAG...
ENST00000639077.1:n.889+77_889+78insGAGGAAGGAAGGAAGGAAGGAAGG
ENST00000369538.3:c.1311+77_1311+78insGAGGAAGGAAGGAAGGAAGGAAGG	ENSP00000358551.3:n.1311+77_1311+78insGAGGAAGGAAGGAAGGAAGGAAG...
ENST00000520113.6:c.1323+77_1323+78insGAGGAAGGAAGGAAGGAAGGAAGG	ENSP00000430075.2:n.1323+77_1323+78insGAGGAAGGAAGGAAGGAAGGAAG...
NM_000036.2:c.1323+77_1323+78insGAGGAAGGAAGGAAGGAAGGAAGG	NP_000027.2:n.1323+77_1323+78insGAGGAAGGAAGGAAGGAAGGAAGG
NM_001172626.1:c.1311+77_1311+78insGAGGAAGGAAGGAAGGAAGGAAGG	NP_001166097.1:n.1311+77_1311+78insGAGGAAGGAAGGAAGGAAGGAAGG
NM_000036.3:c.1224+77_1224+78insGAGGAAGGAAGGAAGGAAGGAAGG MANE Select	NP_000027.3:n.1224+77_1224+78insGAGGAAGGAAGGAAGGAAGGAAGG
NM_001172626.2:c.1212+77_1212+78insGAGGAAGGAAGGAAGGAAGGAAGG	NP_001166097.2:n.1212+77_1212+78insGAGGAAGGAAGGAAGGAAGGAAGG