Canonical Allele Identifier: CA29054930

Gene: AMPD1

Linked Data

• dbSNP Id: rs1001376319
• gnomAD v3: 1-114677786-TTTCCCTCTCTCCCTCC-T
• gnomAD v4: 1-114677786-TTTCCCTCTCTCCCTCC-T
• MyVariant Identifiers: chr1:g.115220408_115220423del (hg19) ; chr1:g.114677787_114677802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677791_114677806del , CM000663.2:g.114677791_114677806del	GRCh38
NC_000001.10:g.115220412_115220427del , CM000663.1:g.115220412_115220427del	GRCh37
NC_000001.9:g.115021935_115021950del	NCBI36
NG_008012.1:g.22754_22769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+108_1212+123del	ENSP00000358551.4:n.1212+108_1212+123del
ENST00000520113.7:c.1224+108_1224+123del MANE Select	ENSP00000430075.3:n.1224+108_1224+123del
ENST00000637080.1:c.1007+108_1007+123del	ENSP00000489753.1:n.1007+108_1007+123del
ENST00000639077.1:n.889+108_889+123del
ENST00000369538.3:c.1311+108_1311+123del	ENSP00000358551.3:n.1311+108_1311+123del
ENST00000520113.6:c.1323+108_1323+123del	ENSP00000430075.2:n.1323+108_1323+123del
NM_000036.2:c.1323+108_1323+123del	NP_000027.2:n.1323+108_1323+123del
NM_001172626.1:c.1311+108_1311+123del	NP_001166097.1:n.1311+108_1311+123del
NM_000036.3:c.1224+108_1224+123del MANE Select	NP_000027.3:n.1224+108_1224+123del
NM_001172626.2:c.1212+108_1212+123del	NP_001166097.2:n.1212+108_1212+123del