Canonical Allele Identifier: CA16041846
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 371228
ClinVar RCV Id: RCV000411207
dbSNP Id: rs1057517107

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50166040_50166049del , CM000679.2:g.50166040_50166049del GRCh38
NC_000017.10:g.48243401_48243410del , CM000679.1:g.48243401_48243410del GRCh37
NC_000017.9:g.45598400_45598409del NCBI36
NG_008889.1:g.5036_5045del , LRG_203:g.5036_5045del

Transcript Alleles

HGVS Amino-acid change
ENST00000683294.1:c.-1_9del
ENST00000262018.8:c.-1_9del
ENST00000262018.7:c.-1_9del
ENST00000344627.10:c.-1_9del
ENST00000502555.5:c.-1_9del
ENST00000513821.5:c.-1_9del
ENST00000513942.5:n.103+1724_103+1733del
ENST00000514934.1:c.-1_9del
NM_000023.2:c.-1_9del , LRG_203t1:c.-1_9del
NM_001135697.1:c.-1_9del
XM_011525120.1:c.-1_9del
XM_011525121.1:c.-1_9del
XM_011525122.1:c.-1_9del
XM_011525123.1:c.-1_9del
XM_011525124.1:c.-152_-143del XP_011523426.1:n.-152_-143del
XR_934517.1:n.66_75del
XR_934832.1:n.55_64del
XR_934833.1:n.55_64del
XR_934834.1:n.55_64del
XR_934835.1:n.55_64del
NM_000023.3:c.-1_9del
NM_001135697.2:c.-1_9del
NR_135553.1:n.56_65del
XM_011525120.2:c.162_171del XP_011523422.2:p.Met55HisfsTer?
XM_011525121.2:c.162_171del XP_011523423.2:p.Met55HisfsTer?
XM_011525122.2:c.162_171del XP_011523424.2:p.Met55HisfsTer?
XM_011525123.2:c.162_171del XP_011523425.2:p.Met55HisfsTer?
XM_011525124.2:c.-152_-143del XP_011523426.1:n.-152_-143del
XM_024450873.1:c.-152_-143del XP_024306641.1:n.-152_-143del
XR_001752932.1:n.674_683del
XR_002958056.1:n.518_527del
XR_934832.2:n.674_683del
XR_934833.2:n.674_683del
XR_934835.2:n.674_683del
NM_000023.4:c.-1_9del
NM_001135697.3:c.-1_9del
NR_135553.2:n.36_45del