Canonical Allele Identifier: CA2429825240
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs2075686865
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405263_53405264insGACAAG , CM000685.2:g.53405263_53405264insGACAAG GRCh38
NC_000023.10:g.53432195_53432196insGACAAG , CM000685.1:g.53432195_53432196insGACAAG GRCh37
NC_000023.9:g.53448920_53448921insGACAAG NCBI36
NG_006988.2:g.22411_22412insTCCTTG , LRG_773:g.22411_22412insTCCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.2043_2044insTCCTTG MANE Select ENSP00000323421.3:p.Leu681_Thr682insSerLeu
ENST00000674590.1:c.1275_1276insTCCTTG ENSP00000502626.1:p.Leu425_Thr426insSerLeu
ENST00000675065.1:n.1395_1396insTCCTTG
ENST00000675504.1:c.1977_1978insTCCTTG ENSP00000502524.1:p.Leu659_Thr660insSerLeu
ENST00000322213.8:c.2043_2044insTCCTTG ENSP00000323421.3:p.Leu681_Thr682insSerLeu
ENST00000375340.10:c.1977_1978insTCCTTG ENSP00000364489.7:p.Leu659_Thr660insSerLeu
NM_001281463.1:c.1977_1978insTCCTTG , LRG_773t1:c.1977_1978insTCCTTG NP_001268392.1:p.Leu659_Thr660insSerLeu
NM_006306.3:c.2043_2044insTCCTTG , LRG_773t2:c.2043_2044insTCCTTG NP_006297.2:p.Leu681_Thr682insSerLeu
NM_006306.4:c.2043_2044insTCCTTG MANE Select NP_006297.2:p.Leu681_Thr682insSerLeu
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