Canonical Allele Identifier: CA528652599

Gene: LAMB3

Linked Data

• dbSNP Id: rs1429596548
• gnomAD v2: 1-209797486-C-CT
• gnomAD v3: 1-209624141-C-CT
• gnomAD v4: 1-209624141-C-CT
• MyVariant Identifiers: chr1:g.209797486_209797487insT (hg19) ; chr1:g.209624141_209624142insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209624142dup , CM000663.2:g.209624142dup	GRCh38
NC_000001.10:g.209797487dup , CM000663.1:g.209797487dup	GRCh37
NC_000001.9:g.207864110dup	NCBI36
NG_007116.1:g.33334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1977-142dup MANE Select	ENSP00000348384.3:n.1977-142dup
ENST00000356082.8:c.1977-142dup	ENSP00000348384.3:n.1977-142dup
ENST00000367030.7:c.1977-142dup	ENSP00000355997.3:n.1977-142dup
ENST00000391911.5:c.1977-142dup	ENSP00000375778.1:n.1977-142dup
NM_000228.2:c.1977-142dup	NP_000219.2:n.1977-142dup
NM_001017402.1:c.1977-142dup	NP_001017402.1:n.1977-142dup
NM_001127641.1:c.1977-142dup	NP_001121113.1:n.1977-142dup
XM_005273124.3:c.1977-142dup	XP_005273181.1:n.1977-142dup
XM_005273124.4:c.1977-142dup	XP_005273181.1:n.1977-142dup
XM_017001272.2:c.1785-142dup	XP_016856761.1:n.1785-142dup
NM_000228.3:c.1977-142dup MANE Select	NP_000219.2:n.1977-142dup
NM_001017402.2:c.1977-142dup	NP_001017402.1:n.1977-142dup