Canonical Allele Identifier: CA753642715

Gene: SMC1B

Linked Data

• dbSNP Id: rs1179043749
• gnomAD v3: 22-45344104-CAT-C
• gnomAD v4: 22-45344104-CAT-C
• MyVariant Identifiers: chr22:g.45739986_45739987del (hg19) ; chr22:g.45344105_45344106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45344106_45344107del , CM000684.2:g.45344106_45344107del	GRCh38
NC_000022.10:g.45739987_45739988del , CM000684.1:g.45739987_45739988del	GRCh37
NC_000022.9:g.44118651_44118652del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357450.9:c.*450_*451del MANE Select	ENSP00000350036.4:n.*450_*451del
ENST00000357450.8:c.4158_4159del	ENSP00000350036.4:n.4158_4159del
NM_001291501.1:c.*450_*451del	NP_001278430.1:n.*450_*451del
NM_148674.4:c.*450_*451del	NP_683515.4:n.*450_*451del
XM_011530144.1:c.*450_*451del	XP_011528446.1:n.*450_*451del
XR_244368.3:n.4147_4148del
XM_011530144.2:c.*450_*451del	XP_011528446.1:n.*450_*451del
XR_244368.4:n.4192_4193del
NM_148674.5:c.*450_*451del MANE Select	NP_683515.4:n.*450_*451del
NM_001291501.2:c.*450_*451del	NP_001278430.1:n.*450_*451del