Canonical Allele Identifier: CA2580060359
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167582_50167584del , CM000679.2:g.50167582_50167584del GRCh38
NC_000017.10:g.48244943_48244945del , CM000679.1:g.48244943_48244945del GRCh37
NC_000017.9:g.45599942_45599944del NCBI36
NG_008889.1:g.6578_6580del , LRG_203:g.6578_6580del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.158_160del
ENST00000511303.6:n.38-365_38-363del
ENST00000512526.2:c.158_160del
ENST00000682109.1:c.38_40del
ENST00000683294.1:c.158_160del
ENST00000262018.8:c.158_160del
ENST00000262018.7:c.158_160del
ENST00000344627.10:c.158_160del
ENST00000502555.5:c.157+95_157+97del ENSP00000422817.1:n.157+95_157+97del
ENST00000511303.5:c.34-365_34-363del ENSP00000426104.1:n.34-365_34-363del
ENST00000512526.1:c.2_4del
ENST00000513821.5:c.158_160del
ENST00000513942.5:n.104-365_104-363del
ENST00000514934.1:c.*18+95_*18+97del ENSP00000423168.1:n.*18+95_*18+97del
NM_000023.2:c.158_160del , LRG_203t1:c.158_160del
NM_001135697.1:c.158_160del
XM_011525120.1:c.158_160del
XM_011525121.1:c.158_160del
XM_011525122.1:c.158_160del
XM_011525123.1:c.158_160del
XM_011525124.1:c.6+95_6+97del XP_011523426.1:n.6+95_6+97del
XR_934517.1:n.224_226del
NM_000023.3:c.158_160del
NM_001135697.2:c.158_160del
NR_135553.1:n.214_216del
XM_011525120.2:c.320_322del
XM_011525121.2:c.320_322del
XM_011525122.2:c.320_322del
XM_011525123.2:c.320_322del
XM_011525124.2:c.6+95_6+97del XP_011523426.1:n.6+95_6+97del
XM_024450873.1:c.6+95_6+97del XP_024306641.1:n.6+95_6+97del
XR_002958056.1:n.676_678del
NM_000023.4:c.158_160del
NM_001135697.3:c.158_160del
NR_135553.2:n.194_196del