Canonical Allele Identifier: CA2429827536
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs2075715672
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53412268_53412269insA , CM000685.2:g.53412268_53412269insA GRCh38
NC_000023.10:g.53439218_53439219insA , CM000685.1:g.53439218_53439219insA GRCh37
NC_000023.9:g.53455943_53455944insA NCBI36
NG_006988.2:g.15402_15403insT , LRG_773:g.15402_15403insT

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.855-16_855-15insT MANE Select ENSP00000323421.3:n.855-16_855-15insT
ENST00000674590.1:c.346-368_346-367insT ENSP00000502626.1:n.346-368_346-367insT
ENST00000675065.1:n.466-368_466-367insT
ENST00000675504.1:c.789-16_789-15insT ENSP00000502524.1:n.789-16_789-15insT
ENST00000322213.8:c.855-16_855-15insT ENSP00000323421.3:n.855-16_855-15insT
ENST00000375340.10:c.789-16_789-15insT ENSP00000364489.7:n.789-16_789-15insT
ENST00000463684.1:c.*388-16_*388-15insT ENSP00000476958.1:n.*388-16_*388-15insT
NM_001281463.1:c.789-16_789-15insT , LRG_773t1:c.789-16_789-15insT NP_001268392.1:n.789-16_789-15insT
NM_006306.3:c.855-16_855-15insT , LRG_773t2:c.855-16_855-15insT NP_006297.2:n.855-16_855-15insT
NM_006306.4:c.855-16_855-15insT MANE Select NP_006297.2:n.855-16_855-15insT
Search 100 bp 5'
Search 100 bp 3'