Canonical Allele Identifier: CA802057123

Gene: APC

Linked Data

• dbSNP Id: rs565045828
• gnomAD v3: 5-112707585-CG-C
• gnomAD v4: 5-112707585-CG-C
• MyVariant Identifiers: chr5:g.112043283del (hg19) ; chr5:g.112707586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707592del , CM000667.2:g.112707592del	GRCh38
NC_000005.9:g.112043289del , CM000667.1:g.112043289del	GRCh37
NC_000005.8:g.112071188del	NCBI36
NG_008481.4:g.20072del , LRG_130:g.20072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-126del	ENSP00000481752.1:n.-126del
ENST00000507379.6:c.-126del	ENSP00000423224.2:n.-126del
ENST00000509732.6:c.-76del	ENSP00000426541.2:n.-76del
ENST00000505350.1:c.-126del	ENSP00000481752.1:n.-126del
ENST00000507379.5:c.-126del	ENSP00000423224.1:n.-126del
ENST00000509732.5:c.-76del	ENSP00000426541.1:n.-76del
NM_001127511.2:c.-126del	NP_001120983.2:n.-126del
NM_001354895.1:c.-309del	NP_001341824.1:n.-309del
NM_001354897.1:c.-126del	NP_001341826.1:n.-126del
NM_001354902.1:c.-126del	NP_001341831.1:n.-126del
NM_001127511.3:c.-126del	NP_001120983.2:n.-126del
NM_001354895.2:c.-309del	NP_001341824.1:n.-309del
NM_001354897.2:c.-126del	NP_001341826.1:n.-126del
NM_001354902.2:c.-126del	NP_001341831.1:n.-126del