Canonical Allele Identifier: CA561890284

Gene: APC

Linked Data

• dbSNP Id: rs1465458179
• gnomAD v2: 5-112043487-TG-T
• gnomAD v4: 5-112707790-TG-T
• MyVariant Identifiers: chr5:g.112043488del (hg19) ; chr5:g.112707791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707792del , CM000667.2:g.112707792del	GRCh38
NC_000005.9:g.112043489del , CM000667.1:g.112043489del	GRCh37
NC_000005.8:g.112071388del	NCBI36
NG_008481.4:g.20272del , LRG_130:g.20272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.75del	ENSP00000481752.1:p.Trp25Ter
ENST00000507379.6:c.75del	ENSP00000423224.2:p.Trp25Ter
ENST00000509732.6:c.-19+143del	ENSP00000426541.2:n.-19+143del
ENST00000505350.1:c.75del	ENSP00000481752.1:p.Trp25Ter
ENST00000507379.5:c.75del	ENSP00000423224.1:p.Trp25Ter
ENST00000509732.5:c.-19+143del	ENSP00000426541.1:n.-19+143del
NM_001127511.2:c.75del	NP_001120983.2:p.Trp25Ter
NM_001354895.1:c.-109del	NP_001341824.1:n.-109del
NM_001354897.1:c.75del	NP_001341826.1:p.Trp25Ter
NM_001354902.1:c.75del	NP_001341831.1:p.Trp25Ter
NM_001127511.3:c.75del	NP_001120983.2:p.Trp25Ter
NM_001354895.2:c.-109del	NP_001341824.1:n.-109del
NM_001354897.2:c.75del	NP_001341826.1:p.Trp25Ter
NM_001354902.2:c.75del	NP_001341831.1:p.Trp25Ter