Canonical Allele Identifier: CA2484295721
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209617109_209617115delinsCCAGTGT , CM000663.2:g.209617109_209617115delinsCCAGTGT GRCh38
NC_000001.10:g.209790454_209790460delinsCCAGTGT , CM000663.1:g.209790454_209790460delinsCCAGTGT GRCh37
NC_000001.9:g.207857077_207857083delinsCCAGTGT NCBI36
NG_007116.1:g.40361_40367delinsACACTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.3228+295_3228+301delinsACACTGG MANE Select ENSP00000348384.3:n.3228+295_3228+301delinsACACTGG
ENST00000356082.8:c.3228+295_3228+301delinsACACTGG ENSP00000348384.3:n.3228+295_3228+301delinsACACTGG
ENST00000367030.7:c.3228+295_3228+301delinsACACTGG ENSP00000355997.3:n.3228+295_3228+301delinsACACTGG
ENST00000391911.5:c.3228+295_3228+301delinsACACTGG ENSP00000375778.1:n.3228+295_3228+301delinsACACTGG
ENST00000455193.1:c.435+295_435+301delinsACACTGG ENSP00000398683.1:n.435+295_435+301delinsACACTGG
NM_000228.2:c.3228+295_3228+301delinsACACTGG NP_000219.2:n.3228+295_3228+301delinsACACTGG
NM_001017402.1:c.3228+295_3228+301delinsACACTGG NP_001017402.1:n.3228+295_3228+301delinsACACTGG
NM_001127641.1:c.3228+295_3228+301delinsACACTGG NP_001121113.1:n.3228+295_3228+301delinsACACTGG
XM_005273124.3:c.3228+295_3228+301delinsACACTGG XP_005273181.1:n.3228+295_3228+301delinsACACTGG
XM_005273124.4:c.3228+295_3228+301delinsACACTGG XP_005273181.1:n.3228+295_3228+301delinsACACTGG
XM_017001272.2:c.3036+295_3036+301delinsACACTGG XP_016856761.1:n.3036+295_3036+301delinsACACTGG
NM_000228.3:c.3228+295_3228+301delinsACACTGG MANE Select NP_000219.2:n.3228+295_3228+301delinsACACTGG
NM_001017402.2:c.3228+295_3228+301delinsACACTGG NP_001017402.1:n.3228+295_3228+301delinsACACTGG