Canonical Allele Identifier: CA885812500

Gene: AMPD1

Linked Data

• dbSNP Id: rs1402049274
• gnomAD v3: 1-114677795-CTCCCTCCTTCCTTCCTTCCTTCCT-C
• gnomAD v4: 1-114677795-CTCCCTCCTTCCTTCCTTCCTTCCT-C
• MyVariant Identifiers: chr1:g.115220417_115220440del (hg19) ; chr1:g.114677796_114677819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677799_114677822del , CM000663.2:g.114677799_114677822del	GRCh38
NC_000001.10:g.115220420_115220443del , CM000663.1:g.115220420_115220443del	GRCh37
NC_000001.9:g.115021943_115021966del	NCBI36
NG_008012.1:g.22737_22760del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1212+91_1212+114del	ENSP00000358551.4:n.1212+91_1212+114del
ENST00000520113.7:c.1224+91_1224+114del MANE Select	ENSP00000430075.3:n.1224+91_1224+114del
ENST00000637080.1:c.1007+91_1007+114del	ENSP00000489753.1:n.1007+91_1007+114del
ENST00000639077.1:n.889+91_889+114del
ENST00000369538.3:c.1311+91_1311+114del	ENSP00000358551.3:n.1311+91_1311+114del
ENST00000520113.6:c.1323+91_1323+114del	ENSP00000430075.2:n.1323+91_1323+114del
NM_000036.2:c.1323+91_1323+114del	NP_000027.2:n.1323+91_1323+114del
NM_001172626.1:c.1311+91_1311+114del	NP_001166097.1:n.1311+91_1311+114del
NM_000036.3:c.1224+91_1224+114del MANE Select	NP_000027.3:n.1224+91_1224+114del
NM_001172626.2:c.1212+91_1212+114del	NP_001166097.2:n.1212+91_1212+114del