Canonical Allele Identifier: CA2576316777
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168308_50168318del , CM000679.2:g.50168308_50168318del GRCh38
NC_000017.10:g.48245669_48245679del , CM000679.1:g.48245669_48245679del GRCh37
NC_000017.9:g.45600668_45600678del NCBI36
NG_008889.1:g.7304_7314del , LRG_203:g.7304_7314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.386-66_386-56del ENSP00000422030.2:n.386-66_386-56del
ENST00000511303.6:n.111-66_111-56del
ENST00000512526.2:c.377-66_377-56del ENSP00000426606.2:n.377-66_377-56del
ENST00000682109.1:c.266-66_266-56del ENSP00000508041.1:n.266-66_266-56del
ENST00000683226.1:n.96-66_96-56del
ENST00000683294.1:c.386-66_386-56del ENSP00000508134.1:n.386-66_386-56del
ENST00000262018.8:c.386-66_386-56del MANE Select ENSP00000262018.3:n.386-66_386-56del
ENST00000262018.7:c.386-66_386-56del ENSP00000262018.3:n.386-66_386-56del
ENST00000344627.10:c.386-66_386-56del ENSP00000345522.6:n.386-66_386-56del
ENST00000502555.5:c.*45-66_*45-56del ENSP00000422817.1:n.*45-66_*45-56del
ENST00000511303.5:c.107-66_107-56del ENSP00000426104.1:n.107-66_107-56del
ENST00000512526.1:c.221-66_221-56del
ENST00000513821.5:c.386-66_386-56del ENSP00000426571.1:n.386-66_386-56del
ENST00000513942.5:n.177-66_177-56del
ENST00000514934.1:c.*92-66_*92-56del ENSP00000423168.1:n.*92-66_*92-56del
NM_000023.2:c.386-66_386-56del , LRG_203t1:c.386-66_386-56del NP_000014.1:n.386-66_386-56del
NM_001135697.1:c.386-66_386-56del NP_001129169.1:n.386-66_386-56del
XM_011525120.1:c.386-66_386-56del XP_011523422.1:n.386-66_386-56del
XM_011525121.1:c.386-66_386-56del XP_011523423.1:n.386-66_386-56del
XM_011525122.1:c.386-66_386-56del XP_011523424.1:n.386-66_386-56del
XM_011525123.1:c.386-66_386-56del XP_011523425.1:n.386-66_386-56del
XM_011525124.1:c.80-66_80-56del XP_011523426.1:n.80-66_80-56del
XR_934517.1:n.452-66_452-56del
NM_000023.3:c.386-66_386-56del NP_000014.1:n.386-66_386-56del
NM_001135697.2:c.386-66_386-56del NP_001129169.1:n.386-66_386-56del
NR_135553.1:n.442-66_442-56del
XM_011525120.2:c.548-66_548-56del XP_011523422.2:n.548-66_548-56del
XM_011525121.2:c.548-66_548-56del XP_011523423.2:n.548-66_548-56del
XM_011525122.2:c.548-66_548-56del XP_011523424.2:n.548-66_548-56del
XM_011525123.2:c.548-66_548-56del XP_011523425.2:n.548-66_548-56del
XM_011525124.2:c.80-66_80-56del XP_011523426.1:n.80-66_80-56del
XM_024450873.1:c.80-66_80-56del XP_024306641.1:n.80-66_80-56del
XR_002958056.1:n.904-66_904-56del
NM_000023.4:c.386-66_386-56del MANE Select NP_000014.1:n.386-66_386-56del
NM_001135697.3:c.386-66_386-56del NP_001129169.1:n.386-66_386-56del
NR_135553.2:n.422-66_422-56del