Canonical Allele Identifier: CA1376104

Gene: LAMB3

Linked Data

• dbSNP Id: rs751141486
• ExAC: 1:209823412 T / TA
• gnomAD v2: 1-209823412-T-TA
• gnomAD v4: 1-209650067-T-TA
• MyVariant Identifiers: chr1:g.209823412_209823413insA (hg19) ; chr1:g.209650067_209650068insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209650068dup , CM000663.2:g.209650068dup	GRCh38
NC_000001.10:g.209823413dup , CM000663.1:g.209823413dup	GRCh37
NC_000001.9:g.207890036dup	NCBI36
NG_007116.1:g.7408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.79dup MANE Select	ENSP00000348384.3:p.Tyr27LeufsTer27
ENST00000356082.8:c.79dup	ENSP00000348384.3:p.Tyr27LeufsTer27
ENST00000367030.7:c.79dup	ENSP00000355997.3:p.Tyr27LeufsTer27
ENST00000391911.5:c.79dup	ENSP00000375778.1:p.Tyr27LeufsTer27
ENST00000415782.1:c.79dup	ENSP00000388960.1:p.Tyr27LeufsTer27
NM_000228.2:c.79dup	NP_000219.2:p.Tyr27LeufsTer27
NM_001017402.1:c.79dup	NP_001017402.1:p.Tyr27LeufsTer27
NM_001127641.1:c.79dup	NP_001121113.1:p.Tyr27LeufsTer27
XM_005273124.3:c.79dup	XP_005273181.1:p.Tyr27LeufsTer27
XM_005273124.4:c.79dup	XP_005273181.1:p.Tyr27LeufsTer27
XM_017001272.2:c.79dup	XP_016856761.1:p.Tyr27LeufsTer27
NM_000228.3:c.79dup MANE Select	NP_000219.2:p.Tyr27LeufsTer27
NM_001017402.2:c.79dup	NP_001017402.1:p.Tyr27LeufsTer27