Canonical Allele Identifier: CA2429817440

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382422_53382426delinsCTGGA , CM000685.2:g.53382422_53382426delinsCTGGA	GRCh38
NC_000023.10:g.53409343_53409347delinsCTGGA , CM000685.1:g.53409343_53409347delinsCTGGA	GRCh37
NC_000023.9:g.53426068_53426072delinsCTGGA	NCBI36
NG_006988.2:g.45245_45249delinsTCCAG , LRG_773:g.45245_45249delinsTCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3286-43_3286-39delinsTCCAG MANE Select	ENSP00000323421.3:n.3286-43_3286-39delinsTCCAG
ENST00000674590.1:c.2518-43_2518-39delinsTCCAG	ENSP00000502626.1:n.2518-43_2518-39delinsTCCAG
ENST00000675504.1:c.3220-43_3220-39delinsTCCAG	ENSP00000502524.1:n.3220-43_3220-39delinsTCCAG
ENST00000322213.8:c.3286-43_3286-39delinsTCCAG	ENSP00000323421.3:n.3286-43_3286-39delinsTCCAG
ENST00000375340.10:c.3220-43_3220-39delinsTCCAG	ENSP00000364489.7:n.3220-43_3220-39delinsTCCAG
ENST00000469129.1:n.142-43_142-39delinsTCCAG
ENST00000470241.2:c.576-43_576-39delinsTCCAG
NM_001281463.1:c.3220-43_3220-39delinsTCCAG , LRG_773t1:c.3220-43_3220-39delinsTCCAG	NP_001268392.1:n.3220-43_3220-39delinsTCCAG
NM_006306.3:c.3286-43_3286-39delinsTCCAG , LRG_773t2:c.3286-43_3286-39delinsTCCAG	NP_006297.2:n.3286-43_3286-39delinsTCCAG
NM_006306.4:c.3286-43_3286-39delinsTCCAG MANE Select	NP_006297.2:n.3286-43_3286-39delinsTCCAG