Canonical Allele Identifier: CA2594068998
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v3: 17-42404725-A-ACTC
gnomAD v4: 17-42404725-A-ACTC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404729_42404731dup , CM000679.2:g.42404729_42404731dup GRCh38
NC_000017.10:g.40556747_40556749dup , CM000679.1:g.40556747_40556749dup GRCh37
NC_000017.9:g.37810273_37810275dup NCBI36
NG_015845.1:g.23593_23595dup
NG_015845.2:g.23593_23595dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1132_1134dup MANE Select ENSP00000349541.4:p.Glu378_Ser379insGlu
ENST00000357037.5:c.1132_1134dup ENSP00000349541.4:p.Glu378_Ser379insGlu
NM_012232.5:c.1132_1134dup NP_036364.2:p.Glu378_Ser379insGlu
NM_012232.6:c.1132_1134dup MANE Select NP_036364.2:p.Glu378_Ser379insGlu
Search 100 bp 5'
Search 100 bp 3'