Canonical Allele Identifier: CA124941262

Gene: APC

Linked Data

• dbSNP Id: rs112112370
• gnomAD v2: 5-112063779-ATT-A
• gnomAD v3: 5-112728082-ATT-A
• gnomAD v4: 5-112728082-ATT-A
• MyVariant Identifiers: chr5:g.112063780_112063781del (hg19) ; chr5:g.112728083_112728084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112728093_112728094del , CM000667.2:g.112728093_112728094del	GRCh38
NC_000005.9:g.112063790_112063791del , CM000667.1:g.112063790_112063791del	GRCh37
NC_000005.8:g.112091689_112091690del	NCBI36
NG_008481.4:g.40573_40574del , LRG_130:g.40573_40574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.165+20211_165+20212del	ENSP00000481752.1:n.165+20211_165+20212del
ENST00000507379.6:c.165+20211_165+20212del	ENSP00000423224.2:n.165+20211_165+20212del
ENST00000509732.6:c.-19+20444_-19+20445del	ENSP00000426541.2:n.-19+20444_-19+20445del
ENST00000505350.1:c.165+20211_165+20212del	ENSP00000481752.1:n.165+20211_165+20212del
ENST00000507379.5:c.165+20211_165+20212del	ENSP00000423224.1:n.165+20211_165+20212del
ENST00000509732.5:c.-19+20444_-19+20445del	ENSP00000426541.1:n.-19+20444_-19+20445del
NM_001127511.2:c.165+20211_165+20212del	NP_001120983.2:n.165+20211_165+20212del
NM_001354895.1:c.-19+20211_-19+20212del	NP_001341824.1:n.-19+20211_-19+20212del
NM_001354897.1:c.165+20211_165+20212del	NP_001341826.1:n.165+20211_165+20212del
NM_001354902.1:c.165+20211_165+20212del	NP_001341831.1:n.165+20211_165+20212del
NM_001127511.3:c.165+20211_165+20212del	NP_001120983.2:n.165+20211_165+20212del
NM_001354895.2:c.-19+20211_-19+20212del	NP_001341824.1:n.-19+20211_-19+20212del
NM_001354897.2:c.165+20211_165+20212del	NP_001341826.1:n.165+20211_165+20212del
NM_001354902.2:c.165+20211_165+20212del	NP_001341831.1:n.165+20211_165+20212del