Canonical Allele Identifier: CA2746913409
Gene: LAMC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243181_183243182insGCCGTTTCA , CM000663.2:g.183243181_183243182insGCCGTTTCA GRCh38
NC_000001.10:g.183212316_183212317insGCCGTTTCA , CM000663.1:g.183212316_183212317insGCCGTTTCA GRCh37
NC_000001.9:g.181478939_181478940insGCCGTTTCA NCBI36
NG_007079.2:g.61918_61919insGCCGTTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264144.5:c.3363_3364insGCCGTTTCA MANE Select ENSP00000264144.4:p.Val1121_Leu1122insAlaValSer
ENST00000264144.4:c.3363_3364insGCCGTTTCA ENSP00000264144.4:p.Val1121_Leu1122insAlaValSer
NM_005562.2:c.3363_3364insGCCGTTTCA NP_005553.2:p.Val1121_Leu1122insAlaValSer
NM_005562.3:c.3363_3364insGCCGTTTCA MANE Select NP_005553.2:p.Val1121_Leu1122insAlaValSer
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