Canonical Allele Identifier: CA1009905765
Gene: LAMC2 HGNC NCBI

Linked Data

gnomAD v3: 1-183243181-C-CGCCGCATCA
gnomAD v4: 1-183243181-C-CGCCGCATCA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243181_183243182insGCCGCATCA , CM000663.2:g.183243181_183243182insGCCGCATCA GRCh38
NC_000001.10:g.183212316_183212317insGCCGCATCA , CM000663.1:g.183212316_183212317insGCCGCATCA GRCh37
NC_000001.9:g.181478939_181478940insGCCGCATCA NCBI36
NG_007079.2:g.61918_61919insGCCGCATCA

Transcript Alleles

HGVS Amino-acid change
ENST00000264144.5:c.3363_3364insGCCGCATCA MANE Select ENSP00000264144.4:p.Val1121_Leu1122insAlaAlaSer
ENST00000264144.4:c.3363_3364insGCCGCATCA ENSP00000264144.4:p.Val1121_Leu1122insAlaAlaSer
NM_005562.2:c.3363_3364insGCCGCATCA NP_005553.2:p.Val1121_Leu1122insAlaAlaSer
NM_005562.3:c.3363_3364insGCCGCATCA MANE Select NP_005553.2:p.Val1121_Leu1122insAlaAlaSer
Search 100 bp 5'
Search 100 bp 3'