Canonical Allele Identifier: CA2638707557
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170067_50170070del , CM000679.2:g.50170067_50170070del GRCh38
NC_000017.10:g.48247428_48247431del , CM000679.1:g.48247428_48247431del GRCh37
NC_000017.9:g.45602427_45602430del NCBI36
NG_008889.1:g.9063_9066del , LRG_203:g.9063_9066del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.598-76_598-73del ENSP00000422030.2:n.598-76_598-73del
ENST00000511303.6:n.310-573_310-570del
ENST00000512526.2:c.576-573_576-570del ENSP00000426606.2:n.576-573_576-570del
ENST00000682109.1:c.628-76_628-73del ENSP00000508041.1:n.628-76_628-73del
ENST00000683226.1:n.1270_1273del
ENST00000683294.1:c.751_754del ENSP00000508134.1:p.Trp251ProfsTer?
ENST00000683544.1:n.38_41del
ENST00000262018.8:c.748-76_748-73del MANE Select ENSP00000262018.3:n.748-76_748-73del
ENST00000262018.7:c.748-76_748-73del ENSP00000262018.3:n.748-76_748-73del
ENST00000344627.10:c.585-573_585-570del ENSP00000345522.6:n.585-573_585-570del
ENST00000504073.1:c.65-76_65-73del
ENST00000511303.5:c.306-573_306-570del ENSP00000426104.1:n.306-573_306-570del
ENST00000512526.1:c.420-573_420-570del
ENST00000513821.5:c.748-573_748-570del ENSP00000426571.1:n.748-573_748-570del
ENST00000513942.5:n.376-573_376-570del
NM_000023.2:c.748-76_748-73del , LRG_203t1:c.748-76_748-73del NP_000014.1:n.748-76_748-73del
NM_001135697.1:c.585-573_585-570del NP_001129169.1:n.585-573_585-570del
XM_011525120.1:c.748-76_748-73del XP_011523422.1:n.748-76_748-73del
XM_011525121.1:c.598-76_598-73del XP_011523423.1:n.598-76_598-73del
XM_011525122.1:c.748-573_748-570del XP_011523424.1:n.748-573_748-570del
XM_011525123.1:c.585-573_585-570del XP_011523425.1:n.585-573_585-570del
XM_011525124.1:c.442-76_442-73del XP_011523426.1:n.442-76_442-73del
XR_934517.1:n.814-573_814-570del
NM_000023.3:c.748-76_748-73del NP_000014.1:n.748-76_748-73del
NM_001135697.2:c.585-573_585-570del NP_001129169.1:n.585-573_585-570del
NR_135553.1:n.804-573_804-570del
XM_011525120.2:c.910-76_910-73del XP_011523422.2:n.910-76_910-73del
XM_011525121.2:c.760-76_760-73del XP_011523423.2:n.760-76_760-73del
XM_011525122.2:c.910-573_910-570del XP_011523424.2:n.910-573_910-570del
XM_011525123.2:c.747-573_747-570del XP_011523425.2:n.747-573_747-570del
XM_011525124.2:c.442-76_442-73del XP_011523426.1:n.442-76_442-73del
XM_024450873.1:c.442-76_442-73del XP_024306641.1:n.442-76_442-73del
XR_002958056.1:n.1269_1272del
NM_000023.4:c.748-76_748-73del MANE Select NP_000014.1:n.748-76_748-73del
NM_001135697.3:c.585-573_585-570del NP_001129169.1:n.585-573_585-570del
NR_135553.2:n.784-573_784-570del