Canonical Allele Identifier: CA1573442499

Gene: APC

Linked Data

• ClinVar Variation Id: 1059461
• ClinVar RCV Id: RCV003652223
• dbSNP Id: rs1750584068

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707594_112707614dup , CM000667.2:g.112707594_112707614dup	GRCh38
NC_000005.9:g.112043291_112043311dup , CM000667.1:g.112043291_112043311dup	GRCh37
NC_000005.8:g.112071190_112071210dup	NCBI36
NG_008481.4:g.20074_20094dup , LRG_130:g.20074_20094dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-124_-104dup	ENSP00000481752.1:n.-124_-104dup
ENST00000507379.6:c.-124_-104dup	ENSP00000423224.2:n.-124_-104dup
ENST00000509732.6:c.-74_-54dup	ENSP00000426541.2:n.-74_-54dup
ENST00000505350.1:c.-124_-104dup	ENSP00000481752.1:n.-124_-104dup
ENST00000507379.5:c.-124_-104dup	ENSP00000423224.1:n.-124_-104dup
ENST00000509732.5:c.-74_-54dup	ENSP00000426541.1:n.-74_-54dup
NM_001127511.2:c.-124_-104dup	NP_001120983.2:n.-124_-104dup
NM_001354895.1:c.-307_-287dup	NP_001341824.1:n.-307_-287dup
NM_001354897.1:c.-124_-104dup	NP_001341826.1:n.-124_-104dup
NM_001354902.1:c.-124_-104dup	NP_001341831.1:n.-124_-104dup
NM_001127511.3:c.-124_-104dup	NP_001120983.2:n.-124_-104dup
NM_001354895.2:c.-307_-287dup	NP_001341824.1:n.-307_-287dup
NM_001354897.2:c.-124_-104dup	NP_001341826.1:n.-124_-104dup
NM_001354902.2:c.-124_-104dup	NP_001341831.1:n.-124_-104dup