Canonical Allele Identifier: CA008002

Gene: APC

Linked Data

• ClinVar Variation Id: 181776
• ClinVar RCV Id: RCV000569152 ; RCV000679054 ; RCV003534397 ; RCV003998397
• dbSNP Id: rs730881229
• ExAC: 5:112174337 GATA / G
• gnomAD v2: 5-112174337-GATA-G
• gnomAD v3: 5-112838640-GATA-G
• gnomAD v4: 5-112838640-GATA-G
• MyVariant Identifiers: chr5:g.112174340_112174342del (hg19) ; chr5:g.112174338_112174340del (hg19) ; chr5:g.112838643_112838645del (hg38) ; chr5:g.112838641_112838643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838643_112838645del , CM000667.2:g.112838643_112838645del	GRCh38
NC_000005.9:g.112174340_112174342del , CM000667.1:g.112174340_112174342del	GRCh37
NC_000005.8:g.112202239_112202241del	NCBI36
NG_008481.4:g.151123_151125del , LRG_130:g.151123_151125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2714_2716del	ENSP00000484935.2:n.2714_2716del
ENST00000504915.3:c.3103_3105del	ENSP00000473355.2:p.Asn1035del
ENST00000505350.2:c.*3055_*3057del	ENSP00000481752.1:n.*3055_*3057del
ENST00000507379.6:c.2995_2997del	ENSP00000423224.2:p.Asn999del
ENST00000509732.6:c.3049_3051del	ENSP00000426541.2:p.Asn1017del
ENST00000512211.7:c.3049_3051del	ENSP00000423828.3:p.Asn1017del
ENST00000257430.9:c.3049_3051del MANE Select	ENSP00000257430.4:p.Asn1017del
ENST00000257430.8:c.3049_3051del	ENSP00000257430.4:p.Asn1017del
ENST00000502371.2:c.1402_1404del
ENST00000507379.5:c.2995_2997del	ENSP00000423224.1:p.Asn999del
ENST00000508376.6:c.3049_3051del	ENSP00000427089.2:p.Asn1017del
ENST00000508624.5:c.*2371_*2373del	ENSP00000424265.1:n.*2371_*2373del
ENST00000512211.6:c.3049_3051del	ENSP00000423828.2:p.Asn1017del
ENST00000520401.1:c.230+9671_230+9673del
NM_000038.5:c.3049_3051del	NP_000029.2:p.Asn1017del
NM_001127510.2:c.3049_3051del	NP_001120982.1:p.Asn1017del
NM_001127511.2:c.2995_2997del	NP_001120983.2:p.Asn999del
NM_001354895.1:c.3049_3051del	NP_001341824.1:p.Asn1017del
NM_001354896.1:c.3103_3105del	NP_001341825.1:p.Asn1035del
NM_001354897.1:c.3079_3081del	NP_001341826.1:p.Asn1027del
NM_001354898.1:c.2974_2976del	NP_001341827.1:p.Asn992del
NM_001354899.1:c.2965_2967del	NP_001341828.1:p.Asn989del
NM_001354900.1:c.2926_2928del	NP_001341829.1:p.Asn976del
NM_001354901.1:c.2872_2874del	NP_001341830.1:p.Asn958del
NM_001354902.1:c.2776_2778del	NP_001341831.1:p.Asn926del
NM_001354903.1:c.2746_2748del	NP_001341832.1:p.Asn916del
NM_001354904.1:c.2671_2673del	NP_001341833.1:p.Asn891del
NM_001354905.1:c.2569_2571del	NP_001341834.1:p.Asn857del
NM_001354906.1:c.2200_2202del	NP_001341835.1:p.Asn734del
NM_000038.6:c.3049_3051del MANE Select	NP_000029.2:p.Asn1017del
NM_001127510.3:c.3049_3051del	NP_001120982.1:p.Asn1017del
NM_001127511.3:c.2995_2997del	NP_001120983.2:p.Asn999del
NM_001354895.2:c.3049_3051del	NP_001341824.1:p.Asn1017del
NM_001354896.2:c.3103_3105del	NP_001341825.1:p.Asn1035del
NM_001354897.2:c.3079_3081del	NP_001341826.1:p.Asn1027del
NM_001354898.2:c.2974_2976del	NP_001341827.1:p.Asn992del
NM_001354899.2:c.2965_2967del	NP_001341828.1:p.Asn989del
NM_001354900.2:c.2926_2928del	NP_001341829.1:p.Asn976del
NM_001354901.2:c.2872_2874del	NP_001341830.1:p.Asn958del
NM_001354902.2:c.2776_2778del	NP_001341831.1:p.Asn926del
NM_001354903.2:c.2746_2748del	NP_001341832.1:p.Asn916del
NM_001354904.2:c.2671_2673del	NP_001341833.1:p.Asn891del
NM_001354905.2:c.2569_2571del	NP_001341834.1:p.Asn857del
NM_001354906.2:c.2200_2202del	NP_001341835.1:p.Asn734del