Canonical Allele Identifier: CA1375863

Gene: LAMB3

Linked Data

• dbSNP Id: rs771217575
• ExAC: 1:209806027 CACAGCATA / C
• gnomAD v2: 1-209806027-CACAGCATA-C
• MyVariant Identifiers: chr1:g.209806028_209806035del (hg19) ; chr1:g.209632683_209632690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209632683_209632690del , CM000663.2:g.209632683_209632690del	GRCh38
NC_000001.10:g.209806028_209806035del , CM000663.1:g.209806028_209806035del	GRCh37
NC_000001.9:g.207872651_207872658del	NCBI36
NG_007116.1:g.24786_24793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.715_722del MANE Select	ENSP00000348384.3:p.Tyr239ValfsTer16
ENST00000356082.8:c.715_722del	ENSP00000348384.3:p.Tyr239ValfsTer16
ENST00000367030.7:c.715_722del	ENSP00000355997.3:p.Tyr239ValfsTer16
ENST00000391911.5:c.715_722del	ENSP00000375778.1:p.Tyr239ValfsTer16
NM_000228.2:c.715_722del	NP_000219.2:p.Tyr239ValfsTer16
NM_001017402.1:c.715_722del	NP_001017402.1:p.Tyr239ValfsTer16
NM_001127641.1:c.715_722del	NP_001121113.1:p.Tyr239ValfsTer16
XM_005273124.3:c.715_722del	XP_005273181.1:p.Tyr239ValfsTer16
XM_005273124.4:c.715_722del	XP_005273181.1:p.Tyr239ValfsTer16
XM_017001272.2:c.523_530del	XP_016856761.1:p.Tyr175ValfsTer16
NM_000228.3:c.715_722del MANE Select	NP_000219.2:p.Tyr239ValfsTer16
NM_001017402.2:c.715_722del	NP_001017402.1:p.Tyr239ValfsTer16