Canonical Allele Identifier: CA1011768390

Gene: LAMB3

Linked Data

• dbSNP Id: rs1666643138
• gnomAD v3: 1-209630569-CACTCG-C
• gnomAD v4: 1-209630569-CACTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630572_209630576del , CM000663.2:g.209630572_209630576del	GRCh38
NC_000001.10:g.209803917_209803921del , CM000663.1:g.209803917_209803921del	GRCh37
NC_000001.9:g.207870540_207870544del	NCBI36
NG_007116.1:g.26902_26906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.943+41_943+45del MANE Select	ENSP00000348384.3:n.943+41_943+45del
ENST00000356082.8:c.943+41_943+45del	ENSP00000348384.3:n.943+41_943+45del
ENST00000367030.7:c.943+41_943+45del	ENSP00000355997.3:n.943+41_943+45del
ENST00000391911.5:c.943+41_943+45del	ENSP00000375778.1:n.943+41_943+45del
NM_000228.2:c.943+41_943+45del	NP_000219.2:n.943+41_943+45del
NM_001017402.1:c.943+41_943+45del	NP_001017402.1:n.943+41_943+45del
NM_001127641.1:c.943+41_943+45del	NP_001121113.1:n.943+41_943+45del
XM_005273124.3:c.943+41_943+45del	XP_005273181.1:n.943+41_943+45del
XM_005273124.4:c.943+41_943+45del	XP_005273181.1:n.943+41_943+45del
XM_017001272.2:c.751+41_751+45del	XP_016856761.1:n.751+41_751+45del
NM_000228.3:c.943+41_943+45del MANE Select	NP_000219.2:n.943+41_943+45del
NM_001017402.2:c.943+41_943+45del	NP_001017402.1:n.943+41_943+45del