Canonical Allele Identifier: CA920412758
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs1602398529

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382480_53382481insACAAC , CM000685.2:g.53382480_53382481insACAAC GRCh38
NC_000023.10:g.53409401_53409402insACAAC , CM000685.1:g.53409401_53409402insACAAC GRCh37
NC_000023.9:g.53426126_53426127insACAAC NCBI36
NG_006988.2:g.45190_45191insGTTGT , LRG_773:g.45190_45191insGTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3285+25_3285+26insGTTGT MANE Select ENSP00000323421.3:n.3285+25_3285+26insGTTGT
ENST00000674590.1:c.2517+25_2517+26insGTTGT ENSP00000502626.1:n.2517+25_2517+26insGTTGT
ENST00000675504.1:c.3219+25_3219+26insGTTGT ENSP00000502524.1:n.3219+25_3219+26insGTTGT
ENST00000322213.8:c.3285+25_3285+26insGTTGT ENSP00000323421.3:n.3285+25_3285+26insGTTGT
ENST00000375340.10:c.3219+25_3219+26insGTTGT ENSP00000364489.7:n.3219+25_3219+26insGTTGT
ENST00000469129.1:n.141+25_141+26insGTTGT
ENST00000470241.2:c.575+25_575+26insGTTGT
NM_001281463.1:c.3219+25_3219+26insGTTGT , LRG_773t1:c.3219+25_3219+26insGTTGT NP_001268392.1:n.3219+25_3219+26insGTTGT
NM_006306.3:c.3285+25_3285+26insGTTGT , LRG_773t2:c.3285+25_3285+26insGTTGT NP_006297.2:n.3285+25_3285+26insGTTGT
NM_006306.4:c.3285+25_3285+26insGTTGT MANE Select NP_006297.2:n.3285+25_3285+26insGTTGT