Canonical Allele Identifier: CA36749417

Gene: LAMB3

Linked Data

• dbSNP Id: rs915275324
• gnomAD v4: 1-209617344-GTCC-G
• MyVariant Identifiers: chr1:g.209790690_209790692del (hg19) ; chr1:g.209617345_209617347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617350_209617352del , CM000663.2:g.209617350_209617352del	GRCh38
NC_000001.10:g.209790695_209790697del , CM000663.1:g.209790695_209790697del	GRCh37
NC_000001.9:g.207857318_207857320del	NCBI36
NG_007116.1:g.40129_40131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3228+63_3228+65del MANE Select	ENSP00000348384.3:n.3228+63_3228+65del
ENST00000356082.8:c.3228+63_3228+65del	ENSP00000348384.3:n.3228+63_3228+65del
ENST00000367030.7:c.3228+63_3228+65del	ENSP00000355997.3:n.3228+63_3228+65del
ENST00000391911.5:c.3228+63_3228+65del	ENSP00000375778.1:n.3228+63_3228+65del
ENST00000455193.1:c.435+63_435+65del	ENSP00000398683.1:n.435+63_435+65del
NM_000228.2:c.3228+63_3228+65del	NP_000219.2:n.3228+63_3228+65del
NM_001017402.1:c.3228+63_3228+65del	NP_001017402.1:n.3228+63_3228+65del
NM_001127641.1:c.3228+63_3228+65del	NP_001121113.1:n.3228+63_3228+65del
XM_005273124.3:c.3228+63_3228+65del	XP_005273181.1:n.3228+63_3228+65del
XM_005273124.4:c.3228+63_3228+65del	XP_005273181.1:n.3228+63_3228+65del
XM_017001272.2:c.3036+63_3036+65del	XP_016856761.1:n.3036+63_3036+65del
NM_000228.3:c.3228+63_3228+65del MANE Select	NP_000219.2:n.3228+63_3228+65del
NM_001017402.2:c.3228+63_3228+65del	NP_001017402.1:n.3228+63_3228+65del