Canonical Allele Identifier: CA919856182
Gene: SGCA HGNC NCBI

Linked Data

dbSNP Id: rs1567739545

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167765_50167766del , CM000679.2:g.50167765_50167766del GRCh38
NC_000017.10:g.48245126_48245127del , CM000679.1:g.48245126_48245127del GRCh37
NC_000017.9:g.45600125_45600126del NCBI36
NG_008889.1:g.6761_6762del , LRG_203:g.6761_6762del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.312+29_312+30del ENSP00000422030.2:n.312+29_312+30del
ENST00000511303.6:n.38-182_38-181del
ENST00000512526.2:c.303+38_303+39del ENSP00000426606.2:n.303+38_303+39del
ENST00000682109.1:c.192+29_192+30del ENSP00000508041.1:n.192+29_192+30del
ENST00000683226.1:n.22+29_22+30del
ENST00000683294.1:c.312+29_312+30del ENSP00000508134.1:n.312+29_312+30del
ENST00000262018.8:c.312+29_312+30del MANE Select ENSP00000262018.3:n.312+29_312+30del
ENST00000262018.7:c.312+29_312+30del ENSP00000262018.3:n.312+29_312+30del
ENST00000344627.10:c.312+29_312+30del ENSP00000345522.6:n.312+29_312+30del
ENST00000502555.5:c.158-182_158-181del ENSP00000422817.1:n.158-182_158-181del
ENST00000511303.5:c.34-182_34-181del ENSP00000426104.1:n.34-182_34-181del
ENST00000512526.1:c.147+38_147+39del
ENST00000513821.5:c.312+29_312+30del ENSP00000426571.1:n.312+29_312+30del
ENST00000513942.5:n.104-182_104-181del
ENST00000514934.1:c.*19-182_*19-181del ENSP00000423168.1:n.*19-182_*19-181del
NM_000023.2:c.312+29_312+30del , LRG_203t1:c.312+29_312+30del NP_000014.1:n.312+29_312+30del
NM_001135697.1:c.312+29_312+30del NP_001129169.1:n.312+29_312+30del
XM_011525120.1:c.312+29_312+30del XP_011523422.1:n.312+29_312+30del
XM_011525121.1:c.312+29_312+30del XP_011523423.1:n.312+29_312+30del
XM_011525122.1:c.312+29_312+30del XP_011523424.1:n.312+29_312+30del
XM_011525123.1:c.312+29_312+30del XP_011523425.1:n.312+29_312+30del
XM_011525124.1:c.7-182_7-181del XP_011523426.1:n.7-182_7-181del
XR_934517.1:n.378+29_378+30del
NM_000023.3:c.312+29_312+30del NP_000014.1:n.312+29_312+30del
NM_001135697.2:c.312+29_312+30del NP_001129169.1:n.312+29_312+30del
NR_135553.1:n.368+29_368+30del
XM_011525120.2:c.474+29_474+30del XP_011523422.2:n.474+29_474+30del
XM_011525121.2:c.474+29_474+30del XP_011523423.2:n.474+29_474+30del
XM_011525122.2:c.474+29_474+30del XP_011523424.2:n.474+29_474+30del
XM_011525123.2:c.474+29_474+30del XP_011523425.2:n.474+29_474+30del
XM_011525124.2:c.7-182_7-181del XP_011523426.1:n.7-182_7-181del
XM_024450873.1:c.7-182_7-181del XP_024306641.1:n.7-182_7-181del
XR_002958056.1:n.830+29_830+30del
NM_000023.4:c.312+29_312+30del MANE Select NP_000014.1:n.312+29_312+30del
NM_001135697.3:c.312+29_312+30del NP_001129169.1:n.312+29_312+30del
NR_135553.2:n.348+29_348+30del