Canonical Allele Identifier: CA36750428

Gene: LAMB3

Linked Data

• dbSNP Id: rs749117728
• gnomAD v2: 1-209792266-GTGTC-G
• gnomAD v3: 1-209618921-GTGTC-G
• gnomAD v4: 1-209618921-GTGTC-G
• MyVariant Identifiers: chr1:g.209792267_209792270del (hg19) ; chr1:g.209618922_209618925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618924_209618927del , CM000663.2:g.209618924_209618927del	GRCh38
NC_000001.10:g.209792269_209792272del , CM000663.1:g.209792269_209792272del	GRCh37
NC_000001.9:g.207858892_207858895del	NCBI36
NG_007116.1:g.38551_38554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2702-266_2702-263del MANE Select	ENSP00000348384.3:n.2702-266_2702-263del
ENST00000356082.8:c.2702-266_2702-263del	ENSP00000348384.3:n.2702-266_2702-263del
ENST00000367030.7:c.2702-266_2702-263del	ENSP00000355997.3:n.2702-266_2702-263del
ENST00000391911.5:c.2702-266_2702-263del	ENSP00000375778.1:n.2702-266_2702-263del
NM_000228.2:c.2702-266_2702-263del	NP_000219.2:n.2702-266_2702-263del
NM_001017402.1:c.2702-266_2702-263del	NP_001017402.1:n.2702-266_2702-263del
NM_001127641.1:c.2702-266_2702-263del	NP_001121113.1:n.2702-266_2702-263del
XM_005273124.3:c.2702-266_2702-263del	XP_005273181.1:n.2702-266_2702-263del
XM_005273124.4:c.2702-266_2702-263del	XP_005273181.1:n.2702-266_2702-263del
XM_017001272.2:c.2510-266_2510-263del	XP_016856761.1:n.2510-266_2510-263del
NM_000228.3:c.2702-266_2702-263del MANE Select	NP_000219.2:n.2702-266_2702-263del
NM_001017402.2:c.2702-266_2702-263del	NP_001017402.1:n.2702-266_2702-263del