Canonical Allele Identifier: CA2602933631

Gene: APC

Linked Data

• dbSNP Id: rs2149682507
• gnomAD v3: 5-112737922-TGGGGTA-T
• gnomAD v4: 5-112737922-TGGGGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737925_112737930del , CM000667.2:g.112737925_112737930del	GRCh38
NC_000005.9:g.112073622_112073627del , CM000667.1:g.112073622_112073627del	GRCh37
NC_000005.8:g.112101521_112101526del	NCBI36
NG_008481.4:g.50405_50410del , LRG_130:g.50405_50410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.-19_-19+5del
ENST00000505084.2:n.38_38+5del
ENST00000505350.2:c.166-16948_166-16943del	ENSP00000481752.1:n.166-16948_166-16943del
ENST00000507379.6:c.166-28401_166-28396del	ENSP00000423224.2:n.166-28401_166-28396del
ENST00000509732.6:c.-18-16948_-18-16943del	ENSP00000426541.2:n.-18-16948_-18-16943del
ENST00000257430.9:c.-19_-19+5del
ENST00000257430.8:c.-19_-19+5del
ENST00000505350.1:c.166-16948_166-16943del	ENSP00000481752.1:n.166-16948_166-16943del
ENST00000507379.5:c.166-28401_166-28396del	ENSP00000423224.1:n.166-28401_166-28396del
ENST00000508376.6:c.-127_-127+5del
ENST00000508624.5:c.-19_-19+5del
ENST00000509732.5:c.-18-16948_-18-16943del	ENSP00000426541.1:n.-18-16948_-18-16943del
NM_000038.5:c.-19_-19+5del
NM_001127510.2:c.-127_-127+5del
NM_001127511.2:c.166-28401_166-28396del	NP_001120983.2:n.166-28401_166-28396del
NM_001354895.1:c.-18-16948_-18-16943del	NP_001341824.1:n.-18-16948_-18-16943del
NM_001354896.1:c.-19_-19+5del
NM_001354897.1:c.166-28401_166-28396del	NP_001341826.1:n.166-28401_166-28396del
NM_001354898.1:c.-49_-49+5del
NM_001354899.1:c.-19_-19+5del
NM_001354900.1:c.-43_-43+5del
NM_001354901.1:c.-43_-43+5del
NM_001354902.1:c.166-28401_166-28396del	NP_001341831.1:n.166-28401_166-28396del
NM_001354903.1:c.-19_-19+5del
NM_001354904.1:c.-49_-49+5del
NM_001354905.1:c.-43_-43+5del
NM_001354906.1:c.-1054_-1054+5del
NM_000038.6:c.-19_-19+5del
NM_001127510.3:c.-127_-127+5del
NM_001127511.3:c.166-28401_166-28396del	NP_001120983.2:n.166-28401_166-28396del
NM_001354895.2:c.-18-16948_-18-16943del	NP_001341824.1:n.-18-16948_-18-16943del
NM_001354896.2:c.-19_-19+5del
NM_001354897.2:c.166-28401_166-28396del	NP_001341826.1:n.166-28401_166-28396del
NM_001354898.2:c.-49_-49+5del
NM_001354899.2:c.-19_-19+5del
NM_001354900.2:c.-43_-43+5del
NM_001354901.2:c.-43_-43+5del
NM_001354902.2:c.166-28401_166-28396del	NP_001341831.1:n.166-28401_166-28396del
NM_001354903.2:c.-19_-19+5del
NM_001354904.2:c.-49_-49+5del
NM_001354905.2:c.-43_-43+5del
NM_001354906.2:c.-1054_-1054+5del