Canonical Allele Identifier: CA1375303

Gene: LAMB3

Linked Data

• dbSNP Id: rs756035853
• ExAC: 1:209796940 C / CT
• MyVariant Identifiers: chr1:g.209796940_209796941insT (hg19) ; chr1:g.209623595_209623596insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623595_209623596insT , CM000663.2:g.209623595_209623596insT	GRCh38
NC_000001.10:g.209796940_209796941insT , CM000663.1:g.209796940_209796941insT	GRCh37
NC_000001.9:g.207863563_207863564insT	NCBI36
NG_007116.1:g.33880_33881insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2267_2268insA MANE Select	ENSP00000348384.3:p.Gly758ArgfsTer22
ENST00000356082.8:c.2267_2268insA	ENSP00000348384.3:p.Gly758ArgfsTer22
ENST00000367030.7:c.2267_2268insA	ENSP00000355997.3:p.Gly758ArgfsTer22
ENST00000391911.5:c.2267_2268insA	ENSP00000375778.1:p.Gly758ArgfsTer22
NM_000228.2:c.2267_2268insA	NP_000219.2:p.Gly758ArgfsTer22
NM_001017402.1:c.2267_2268insA	NP_001017402.1:p.Gly758ArgfsTer22
NM_001127641.1:c.2267_2268insA	NP_001121113.1:p.Gly758ArgfsTer22
XM_005273124.3:c.2267_2268insA	XP_005273181.1:p.Gly758ArgfsTer22
XM_005273124.4:c.2267_2268insA	XP_005273181.1:p.Gly758ArgfsTer22
XM_017001272.2:c.2075_2076insA	XP_016856761.1:p.Gly694ArgfsTer22
NM_000228.3:c.2267_2268insA MANE Select	NP_000219.2:p.Gly758ArgfsTer22
NM_001017402.2:c.2267_2268insA	NP_001017402.1:p.Gly758ArgfsTer22