Canonical Allele Identifier: CA124962332

Gene: APC

Linked Data

• dbSNP Id: rs765515750
• gnomAD v2: 5-112146118-GTT-G
• gnomAD v3: 5-112810421-GTT-G
• gnomAD v4: 5-112810421-GTT-G
• MyVariant Identifiers: chr5:g.112146119_112146120del (hg19) ; chr5:g.112810422_112810423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112810424_112810425del , CM000667.2:g.112810424_112810425del	GRCh38
NC_000005.9:g.112146121_112146122del , CM000667.1:g.112146121_112146122del	GRCh37
NC_000005.8:g.112174020_112174021del	NCBI36
NG_008481.4:g.122904_122905del , LRG_130:g.122904_122905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.835-5071_835-5070del	ENSP00000484935.2:n.835-5071_835-5070del
ENST00000504915.3:c.835-5071_835-5070del	ENSP00000473355.2:n.835-5071_835-5070del
ENST00000505084.2:n.891-5071_891-5070del
ENST00000505350.2:c.*841-5071_*841-5070del	ENSP00000481752.1:n.*841-5071_*841-5070de...
ENST00000507379.6:c.781-5071_781-5070del	ENSP00000423224.2:n.781-5071_781-5070del
ENST00000509732.6:c.835-5071_835-5070del	ENSP00000426541.2:n.835-5071_835-5070del
ENST00000512211.7:c.835-5071_835-5070del	ENSP00000423828.3:n.835-5071_835-5070del
ENST00000257430.9:c.835-5071_835-5070del MANE Select	ENSP00000257430.4:n.835-5071_835-5070del
ENST00000257430.8:c.835-5071_835-5070del	ENSP00000257430.4:n.835-5071_835-5070del
ENST00000507379.5:c.781-5071_781-5070del	ENSP00000423224.1:n.781-5071_781-5070del
ENST00000508376.6:c.835-5071_835-5070del	ENSP00000427089.2:n.835-5071_835-5070del
ENST00000508624.5:c.*156+113_*156+114del	ENSP00000424265.1:n.*156+113_*156+114del
ENST00000512211.6:c.835-5071_835-5070del	ENSP00000423828.2:n.835-5071_835-5070del
NM_000038.5:c.835-5071_835-5070del	NP_000029.2:n.835-5071_835-5070del
NM_001127510.2:c.835-5071_835-5070del	NP_001120982.1:n.835-5071_835-5070del
NM_001127511.2:c.781-5071_781-5070del	NP_001120983.2:n.781-5071_781-5070del
NM_001354895.1:c.835-5071_835-5070del	NP_001341824.1:n.835-5071_835-5070del
NM_001354896.1:c.835-5071_835-5070del	NP_001341825.1:n.835-5071_835-5070del
NM_001354897.1:c.865-5071_865-5070del	NP_001341826.1:n.865-5071_865-5070del
NM_001354898.1:c.760-5071_760-5070del	NP_001341827.1:n.760-5071_760-5070del
NM_001354899.1:c.751-5071_751-5070del	NP_001341828.1:n.751-5071_751-5070del
NM_001354900.1:c.658-5071_658-5070del	NP_001341829.1:n.658-5071_658-5070del
NM_001354901.1:c.658-5071_658-5070del	NP_001341830.1:n.658-5071_658-5070del
NM_001354902.1:c.865-5071_865-5070del	NP_001341831.1:n.865-5071_865-5070del
NM_001354903.1:c.835-5071_835-5070del	NP_001341832.1:n.835-5071_835-5070del
NM_001354904.1:c.760-5071_760-5070del	NP_001341833.1:n.760-5071_760-5070del
NM_001354905.1:c.658-5071_658-5070del	NP_001341834.1:n.658-5071_658-5070del
NM_001354906.1:c.-16+113_-16+114del	NP_001341835.1:n.-16+113_-16+114del
NM_000038.6:c.835-5071_835-5070del MANE Select	NP_000029.2:n.835-5071_835-5070del
NM_001127510.3:c.835-5071_835-5070del	NP_001120982.1:n.835-5071_835-5070del
NM_001127511.3:c.781-5071_781-5070del	NP_001120983.2:n.781-5071_781-5070del
NM_001354895.2:c.835-5071_835-5070del	NP_001341824.1:n.835-5071_835-5070del
NM_001354896.2:c.835-5071_835-5070del	NP_001341825.1:n.835-5071_835-5070del
NM_001354897.2:c.865-5071_865-5070del	NP_001341826.1:n.865-5071_865-5070del
NM_001354898.2:c.760-5071_760-5070del	NP_001341827.1:n.760-5071_760-5070del
NM_001354899.2:c.751-5071_751-5070del	NP_001341828.1:n.751-5071_751-5070del
NM_001354900.2:c.658-5071_658-5070del	NP_001341829.1:n.658-5071_658-5070del
NM_001354901.2:c.658-5071_658-5070del	NP_001341830.1:n.658-5071_658-5070del
NM_001354902.2:c.865-5071_865-5070del	NP_001341831.1:n.865-5071_865-5070del
NM_001354903.2:c.835-5071_835-5070del	NP_001341832.1:n.835-5071_835-5070del
NM_001354904.2:c.760-5071_760-5070del	NP_001341833.1:n.760-5071_760-5070del
NM_001354905.2:c.658-5071_658-5070del	NP_001341834.1:n.658-5071_658-5070del
NM_001354906.2:c.-16+113_-16+114del	NP_001341835.1:n.-16+113_-16+114del