Canonical Allele Identifier: CA2633932047
Gene: CDH1 HGNC NCBI

Linked Data

gnomAD v4: 16-68829908-G-GGCAAGCTGAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829908_68829909insGCAAGCTGAAAA , CM000678.2:g.68829908_68829909insGCAAGCTGAAAA GRCh38
NC_000016.9:g.68863811_68863812insGCAAGCTGAAAA , CM000678.1:g.68863811_68863812insGCAAGCTGAAAA GRCh37
NC_000016.8:g.67421312_67421313insGCAAGCTGAAAA NCBI36
NG_008021.1:g.97617_97618insGCAAGCTGAAAA , LRG_301:g.97617_97618insGCAAGCTGAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2439+111_2439+112insGCAAGCTGAAAA MANE Select ENSP00000261769.4:n.2439+111_2439+112insGCAAGCTGAAAA
ENST00000261769.9:c.2439+111_2439+112insGCAAGCTGAAAA ENSP00000261769.4:n.2439+111_2439+112insGCAAGCTGAAAA
ENST00000422392.6:c.2256+111_2256+112insGCAAGCTGAAAA ENSP00000414946.2:n.2256+111_2256+112insGCAAGCTGAAAA
ENST00000562118.1:n.657+111_657+112insGCAAGCTGAAAA
ENST00000562836.5:n.2510+111_2510+112insGCAAGCTGAAAA
ENST00000566510.5:c.*1105+111_*1105+112insGCAAGCTGAAAA ENSP00000458139.1:n.*1105+111_*1105+112insGCAAGCTGAAAA
ENST00000566612.5:c.*679+111_*679+112insGCAAGCTGAAAA ENSP00000454782.1:n.*679+111_*679+112insGCAAGCTGAAAA
ENST00000611625.4:c.2502+111_2502+112insGCAAGCTGAAAA ENSP00000481063.1:n.2502+111_2502+112insGCAAGCTGAAAA
ENST00000612417.4:c.1853+3354_1853+3355insGCAAGCTGAAAA ENSP00000478360.1:n.1853+3354_1853+3355insGCAAGCTGAAAA
ENST00000621016.4:c.1866-4295_1866-4294insGCAAGCTGAAAA ENSP00000480664.1:n.1866-4295_1866-4294insGCAAGCTGAAAA
NM_004360.3:c.2439+111_2439+112insGCAAGCTGAAAA , LRG_301t1:c.2439+111_2439+112insGCAAGCTGAAAA NP_004351.1:n.2439+111_2439+112insGCAAGCTGAAAA
XM_011523488.1:c.1704+111_1704+112insGCAAGCTGAAAA XP_011521790.1:n.1704+111_1704+112insGCAAGCTGAAAA
XM_011523489.1:c.1704+111_1704+112insGCAAGCTGAAAA XP_011521791.1:n.1704+111_1704+112insGCAAGCTGAAAA
NM_001317184.1:c.2256+111_2256+112insGCAAGCTGAAAA NP_001304113.1:n.2256+111_2256+112insGCAAGCTGAAAA
NM_001317185.1:c.891+111_891+112insGCAAGCTGAAAA NP_001304114.1:n.891+111_891+112insGCAAGCTGAAAA
NM_001317186.1:c.474+111_474+112insGCAAGCTGAAAA NP_001304115.1:n.474+111_474+112insGCAAGCTGAAAA
NM_004360.4:c.2439+111_2439+112insGCAAGCTGAAAA NP_004351.1:n.2439+111_2439+112insGCAAGCTGAAAA
NM_004360.5:c.2439+111_2439+112insGCAAGCTGAAAA MANE Select NP_004351.1:n.2439+111_2439+112insGCAAGCTGAAAA
NM_001317184.2:c.2256+111_2256+112insGCAAGCTGAAAA NP_001304113.1:n.2256+111_2256+112insGCAAGCTGAAAA
NM_001317185.2:c.891+111_891+112insGCAAGCTGAAAA NP_001304114.1:n.891+111_891+112insGCAAGCTGAAAA
NM_001317186.2:c.474+111_474+112insGCAAGCTGAAAA NP_001304115.1:n.474+111_474+112insGCAAGCTGAAAA
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