Canonical Allele Identifier: CA2580061626

Gene: LAMC2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183227555_183227556insAGAATGTCAAA , CM000663.2:g.183227555_183227556insAGAATGTCAAA	GRCh38
NC_000001.10:g.183196690_183196691insAGAATGTCAAA , CM000663.1:g.183196690_183196691insAGAATGTCAAA	GRCh37
NC_000001.9:g.181463313_181463314insAGAATGTCAAA	NCBI36
NG_007079.2:g.46292_46293insAGAATGTCAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_005562.3:c.1326_1327insAGAATGTCAAA MANE Select	NP_005553.2:p.Ala443ArgfsTer?
ENST00000264144.5:c.1326_1327insAGAATGTCAAA MANE Select	ENSP00000264144.4:p.Ala443ArgfsTer?
NM_005562.2:c.1326_1327insAGAATGTCAAA	NP_005553.2:p.Ala443ArgfsTer?
NM_018891.2:c.1326_1327insAGAATGTCAAA	NP_061486.2:p.Ala443ArgfsTer?
NM_018891.3:c.1326_1327insAGAATGTCAAA	NP_061486.2:p.Ala443ArgfsTer?
ENST00000264144.4:c.1326_1327insAGAATGTCAAA	ENSP00000264144.4:p.Ala443ArgfsTer?
ENST00000493293.5:c.1326_1327insAGAATGTCAAA	ENSP00000432063.1:p.Ala443ArgfsTer?
XM_017001273.2:c.1326_1327insAGAATGTCAAA	XP_016856762.1:p.Ala443ArgfsTer?