Canonical Allele Identifier: CA2580061969

Gene: LAMB3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623605_209623606insAGCTTGTGGC , CM000663.2:g.209623605_209623606insAGCTTGTGGC	GRCh38
NC_000001.10:g.209796950_209796951insAGCTTGTGGC , CM000663.1:g.209796950_209796951insAGCTTGTGGC	GRCh37
NC_000001.9:g.207863573_207863574insAGCTTGTGGC	NCBI36
NG_007116.1:g.33870_33871insGCCACAAGCT

Transcript Alleles

HGVS	Amino-acid Change
NM_000228.3:c.2257_2258insGCCACAAGCT MANE Select	NP_000219.2:p.Val753GlyfsTer30
ENST00000356082.9:c.2257_2258insGCCACAAGCT MANE Select	ENSP00000348384.3:p.Val753GlyfsTer30
NM_000228.2:c.2257_2258insGCCACAAGCT	NP_000219.2:p.Val753GlyfsTer30
NM_001017402.1:c.2257_2258insGCCACAAGCT	NP_001017402.1:p.Val753GlyfsTer30
NM_001017402.2:c.2257_2258insGCCACAAGCT	NP_001017402.1:p.Val753GlyfsTer30
NM_001127641.1:c.2257_2258insGCCACAAGCT	NP_001121113.1:p.Val753GlyfsTer30
ENST00000356082.8:c.2257_2258insGCCACAAGCT	ENSP00000348384.3:p.Val753GlyfsTer30
ENST00000367030.7:c.2257_2258insGCCACAAGCT	ENSP00000355997.3:p.Val753GlyfsTer30
ENST00000391911.5:c.2257_2258insGCCACAAGCT	ENSP00000375778.1:p.Val753GlyfsTer30
XM_005273124.3:c.2257_2258insGCCACAAGCT	XP_005273181.1:p.Val753GlyfsTer30
XM_005273124.4:c.2257_2258insGCCACAAGCT	XP_005273181.1:p.Val753GlyfsTer30
XM_017001272.2:c.2065_2066insGCCACAAGCT	XP_016856761.1:p.Val689GlyfsTer30