Canonical Allele Identifier: CA2637956457
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404733-G-GTGATCTCCAGCAGCGCGTGCACGTCGGGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404736_42404765dup , CM000679.2:g.42404736_42404765dup GRCh38
NC_000017.10:g.40556754_40556783dup , CM000679.1:g.40556754_40556783dup GRCh37
NC_000017.9:g.37810280_37810309dup NCBI36
NG_015845.1:g.23558_23587dup
NG_015845.2:g.23558_23587dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1097_1126dup MANE Select ENSP00000349541.4:p.Ile375_Thr376insSerProAspValHisAlaLeuLeuG...
ENST00000357037.5:c.1097_1126dup ENSP00000349541.4:p.Ile375_Thr376insSerProAspValHisAlaLeuLeuG...
NM_012232.5:c.1097_1126dup NP_036364.2:p.Ile375_Thr376insSerProAspValHisAlaLeuLeuGluIle
NM_012232.6:c.1097_1126dup MANE Select NP_036364.2:p.Ile375_Thr376insSerProAspValHisAlaLeuLeuGluIle
Search 100 bp 5'
Search 100 bp 3'