Canonical Allele Identifier: CA1020284

Gene: AMPD1

Linked Data

• dbSNP Id: rs751351697
• ExAC: 1:115222210 TTA / T
• gnomAD v2: 1-115222210-TTA-T
• gnomAD v4: 1-114679589-TTA-T
• MyVariant Identifiers: chr1:g.115222211_115222212del (hg19) ; chr1:g.114679590_114679591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679592_114679593del , CM000663.2:g.114679592_114679593del	GRCh38
NC_000001.10:g.115222213_115222214del , CM000663.1:g.115222213_115222214del	GRCh37
NC_000001.9:g.115023736_115023737del	NCBI36
NG_008012.1:g.20965_20966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.873_874del	ENSP00000358551.4:p.Tyr291Ter
ENST00000520113.7:c.885_886del MANE Select	ENSP00000430075.3:p.Tyr295Ter
ENST00000637080.1:c.668_669del	ENSP00000489753.1:n.668_669del
ENST00000639077.1:n.550_551del
ENST00000369538.3:c.972_973del	ENSP00000358551.3:p.Tyr324Ter
ENST00000520113.6:c.984_985del	ENSP00000430075.2:p.Tyr328Ter
NM_000036.2:c.984_985del	NP_000027.2:p.Tyr328Ter
NM_001172626.1:c.972_973del	NP_001166097.1:p.Tyr324Ter
NM_000036.3:c.885_886del MANE Select	NP_000027.3:p.Tyr295Ter
NM_001172626.2:c.873_874del	NP_001166097.2:p.Tyr291Ter