Canonical Allele Identifier: CA1344396475

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733882_8733890delinsGGCAGAAGA , CM000665.2:g.8733882_8733890delinsGGCAGAAGA GRCh38
NC_000003.11:g.8775568_8775576delinsGGCAGAAGA , CM000665.1:g.8775568_8775576delinsGGCAGAAGA GRCh37
NC_000003.10:g.8750568_8750576delinsGGCAGAAGA NCBI36
NG_008797.2:g.5073_5081delinsGGCAGAAGA , LRG_329:g.5073_5081delinsGGCAGAAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.6_14delinsGGCAGAAGA (CAV3) MANE Select ENSP00000341940.2:p.Met2=
ENST00000343849.2:c.6_14delinsGGCAGAAGA (CAV3) ENSP00000341940.2:p.Met2=
ENST00000397368.2:c.6_14delinsGGCAGAAGA (CAV3) ENSP00000380525.2:p.Met2=
ENST00000435138.5:c.64+8569_64+8577delinsTCTTCTGCC (SSUH2) ENSP00000412333.1:n.64+8569_64+8577delins...
ENST00000472766.1:n.47_55delinsGGCAGAAGA (CAV3)
ENST00000478513.1:n.335+8569_335+8577delinsTCTTCTGCC (SSUH2)
NM_001234.4:c.6_14delinsGGCAGAAGA (CAV3) NP_001225.1:p.Met2=
NM_033337.2:c.6_14delinsGGCAGAAGA , LRG_329t1:c.6_14delinsGGCAGAAGA (CAV3) NP_203123.1:p.Met2=
XR_940435.1:n.330+8569_330+8577delinsTCTTCTGCC (SSUH2)
XM_017006530.1:c.-283+8569_-283+8577delinsTCTTCTGCC (SSUH2) XP_016862019.1:n.-283+8569_-283+8577delin...
NM_001234.5:c.6_14delinsGGCAGAAGA (CAV3) NP_001225.1:p.Met2=
NM_033337.3:c.6_14delinsGGCAGAAGA (CAV3) MANE Select NP_203123.1:p.Met2=