Canonical Allele Identifier: CA529000123

Gene: LAMB3

Linked Data

• dbSNP Id: rs1316800932
• gnomAD v2: 1-209798949-TG-T
• gnomAD v4: 1-209625604-TG-T
• MyVariant Identifiers: chr1:g.209798950del (hg19) ; chr1:g.209625605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625606del , CM000663.2:g.209625606del	GRCh38
NC_000001.10:g.209798951del , CM000663.1:g.209798951del	GRCh37
NC_000001.9:g.207865574del	NCBI36
NG_007116.1:g.31871del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.1976+43del MANE Select	ENSP00000348384.3:n.1976+43del
ENST00000356082.8:c.1976+43del	ENSP00000348384.3:n.1976+43del
ENST00000367030.7:c.1976+43del	ENSP00000355997.3:n.1976+43del
ENST00000391911.5:c.1976+43del	ENSP00000375778.1:n.1976+43del
NM_000228.2:c.1976+43del	NP_000219.2:n.1976+43del
NM_001017402.1:c.1976+43del	NP_001017402.1:n.1976+43del
NM_001127641.1:c.1976+43del	NP_001121113.1:n.1976+43del
XM_005273124.3:c.1976+43del	XP_005273181.1:n.1976+43del
XM_005273124.4:c.1976+43del	XP_005273181.1:n.1976+43del
XM_017001272.2:c.1784+43del	XP_016856761.1:n.1784+43del
NM_000228.3:c.1976+43del MANE Select	NP_000219.2:n.1976+43del
NM_001017402.2:c.1976+43del	NP_001017402.1:n.1976+43del