Canonical Allele Identifier: CA2408210867
Gene: SMC1B HGNC NCBI

Linked Data

dbSNP Id: rs2086525621

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.45344102_45344105dup , CM000684.2:g.45344102_45344105dup GRCh38
NC_000022.10:g.45739983_45739986dup , CM000684.1:g.45739983_45739986dup GRCh37
NC_000022.9:g.44118647_44118650dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357450.9:c.*451_*454dup MANE Select ENSP00000350036.4:n.*451_*454dup
ENST00000357450.8:c.4159_4162dup ENSP00000350036.4:n.4159_4162dup
NM_001291501.1:c.*451_*454dup NP_001278430.1:n.*451_*454dup
NM_148674.4:c.*451_*454dup NP_683515.4:n.*451_*454dup
XM_011530144.1:c.*451_*454dup XP_011528446.1:n.*451_*454dup
XR_244368.3:n.4148_4151dup
XM_011530144.2:c.*451_*454dup XP_011528446.1:n.*451_*454dup
XR_244368.4:n.4193_4196dup
NM_148674.5:c.*451_*454dup MANE Select NP_683515.4:n.*451_*454dup
NM_001291501.2:c.*451_*454dup NP_001278430.1:n.*451_*454dup