Canonical Allele Identifier: CA36752605

Gene: LAMB3

Linked Data

• dbSNP Id: rs867717071
• COSMIC: COSM4167686
• MyVariant Identifiers: chr1:g.209796944_209796950del (hg19) ; chr1:g.209623599_209623605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623599_209623605del , CM000663.2:g.209623599_209623605del	GRCh38
NC_000001.10:g.209796944_209796950del , CM000663.1:g.209796944_209796950del	GRCh37
NC_000001.9:g.207863567_207863573del	NCBI36
NG_007116.1:g.33871_33877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2258_2264del MANE Select	ENSP00000348384.3:p.Val753GlyfsTer16
ENST00000356082.8:c.2258_2264del	ENSP00000348384.3:p.Val753GlyfsTer16
ENST00000367030.7:c.2258_2264del	ENSP00000355997.3:p.Val753GlyfsTer16
ENST00000391911.5:c.2258_2264del	ENSP00000375778.1:p.Val753GlyfsTer16
NM_000228.2:c.2258_2264del	NP_000219.2:p.Val753GlyfsTer16
NM_001017402.1:c.2258_2264del	NP_001017402.1:p.Val753GlyfsTer16
NM_001127641.1:c.2258_2264del	NP_001121113.1:p.Val753GlyfsTer16
XM_005273124.3:c.2258_2264del	XP_005273181.1:p.Val753GlyfsTer16
XM_005273124.4:c.2258_2264del	XP_005273181.1:p.Val753GlyfsTer16
XM_017001272.2:c.2066_2072del	XP_016856761.1:p.Val689GlyfsTer16
NM_000228.3:c.2258_2264del MANE Select	NP_000219.2:p.Val753GlyfsTer16
NM_001017402.2:c.2258_2264del	NP_001017402.1:p.Val753GlyfsTer16