Canonical Allele Identifier: CA658824850
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 551197
ClinVar RCV Id: RCV000666187

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167947_50167953del , CM000679.2:g.50167947_50167953del GRCh38
NC_000017.10:g.48245308_48245314del , CM000679.1:g.48245308_48245314del GRCh37
NC_000017.9:g.45600307_45600313del NCBI36
NG_008889.1:g.6943_6949del , LRG_203:g.6943_6949del

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.313_319del
ENST00000511303.6:n.38_44del
ENST00000512526.2:c.304_310del
ENST00000682109.1:c.193_199del
ENST00000683226.1:n.23_29del
ENST00000683294.1:c.313_319del
ENST00000262018.8:c.313_319del
ENST00000262018.7:c.313_319del
ENST00000344627.10:c.313_319del
ENST00000502555.5:c.158_164del
ENST00000511303.5:c.34_40del
ENST00000512526.1:c.148_154del
ENST00000513821.5:c.313_319del
ENST00000513942.5:n.104_110del
ENST00000514934.1:c.*19_*25del
NM_000023.2:c.313_319del , LRG_203t1:c.313_319del
NM_001135697.1:c.313_319del
XM_011525120.1:c.313_319del
XM_011525121.1:c.313_319del
XM_011525122.1:c.313_319del
XM_011525123.1:c.313_319del
XM_011525124.1:c.7_13del
XR_934517.1:n.379_385del
NM_000023.3:c.313_319del
NM_001135697.2:c.313_319del
NR_135553.1:n.369_375del
XM_011525120.2:c.475_481del
XM_011525121.2:c.475_481del
XM_011525122.2:c.475_481del
XM_011525123.2:c.475_481del
XM_011525124.2:c.7_13del
XM_024450873.1:c.7_13del
XR_002958056.1:n.831_837del
NM_000023.4:c.313_319del
NM_001135697.3:c.313_319del
NR_135553.2:n.349_355del