Canonical Allele Identifier: CA1573442749

Gene: APC

Linked Data

• ClinVar Variation Id: 1039141
• ClinVar RCV Id: RCV003652186
• dbSNP Id: rs1750611348

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707817_112707818del , CM000667.2:g.112707817_112707818del	GRCh38
NC_000005.9:g.112043514_112043515del , CM000667.1:g.112043514_112043515del	GRCh37
NC_000005.8:g.112071413_112071414del	NCBI36
NG_008481.4:g.20297_20298del , LRG_130:g.20297_20298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.100_101del	ENSP00000481752.1:p.Val34ProfsTer?
ENST00000507379.6:c.100_101del	ENSP00000423224.2:p.Val34ProfsTer25
ENST00000509732.6:c.-19+168_-19+169del	ENSP00000426541.2:n.-19+168_-19+169del
ENST00000505350.1:c.100_101del	ENSP00000481752.1:p.Val34ProfsTer?
ENST00000507379.5:c.100_101del	ENSP00000423224.1:p.Val34ProfsTer25
ENST00000509732.5:c.-19+168_-19+169del	ENSP00000426541.1:n.-19+168_-19+169del
NM_001127511.2:c.100_101del	NP_001120983.2:p.Val34ProfsTer25
NM_001354895.1:c.-84_-83del	NP_001341824.1:n.-84_-83del
NM_001354897.1:c.100_101del	NP_001341826.1:p.Val34ProfsTer25
NM_001354902.1:c.100_101del	NP_001341831.1:p.Val34ProfsTer25
NM_001127511.3:c.100_101del	NP_001120983.2:p.Val34ProfsTer25
NM_001354895.2:c.-84_-83del	NP_001341824.1:n.-84_-83del
NM_001354897.2:c.100_101del	NP_001341826.1:p.Val34ProfsTer25
NM_001354902.2:c.100_101del	NP_001341831.1:p.Val34ProfsTer25