Canonical Allele Identifier: CA236407

Gene: SGCA

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170664_50170665dup , CM000679.2:g.50170664_50170665dup	GRCh38
NC_000017.10:g.48248025_48248026dup , CM000679.1:g.48248025_48248026dup	GRCh37
NC_000017.9:g.45603024_45603025dup	NCBI36
NG_008889.1:g.9660_9661dup , LRG_203:g.9660_9661dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.831_832dup	ENSP00000422030.2:p.Asp278AlafsTer?
ENST00000511303.6:n.334_335dup
ENST00000512526.2:c.600_601dup	ENSP00000426606.2:n.600_601dup
ENST00000682109.1:c.861_862dup	ENSP00000508041.1:p.Asp288AlafsTer?
ENST00000683226.1:n.1579_1580dup
ENST00000683294.1:c.*84_*85dup	ENSP00000508134.1:n.*84_*85dup
ENST00000683544.1:n.635_636dup
ENST00000262018.8:c.981_982dup MANE Select	ENSP00000262018.3:p.Asp328AlafsTer?
ENST00000262018.7:c.981_982dup	ENSP00000262018.3:p.Asp328AlafsTer?
ENST00000344627.10:c.609_610dup	ENSP00000345522.6:p.Asp204AlafsTer?
ENST00000504073.1:c.298_299dup
ENST00000511303.5:c.330_331dup	ENSP00000426104.1:p.Asp111AlafsTer?
ENST00000512526.1:c.444_445dup
ENST00000513821.5:c.772_773dup	ENSP00000426571.1:p.His259AspfsTer?
ENST00000513942.5:n.400_401dup
NM_000023.2:c.981_982dup , LRG_203t1:c.981_982dup	NP_000014.1:p.Asp328AlafsTer?
NM_001135697.1:c.609_610dup	NP_001129169.1:p.Asp204AlafsTer?
XM_011525120.1:c.981_982dup	XP_011523422.1:p.Asp328AlafsTer?
XM_011525121.1:c.831_832dup	XP_011523423.1:p.Asp278AlafsTer?
XM_011525122.1:c.772_773dup	XP_011523424.1:p.His259AspfsTer?
XM_011525123.1:c.609_610dup	XP_011523425.1:p.Asp204AlafsTer?
XM_011525124.1:c.675_676dup	XP_011523426.1:p.Asp226AlafsTer?
XR_934517.1:n.838_839dup
NM_000023.3:c.981_982dup	NP_000014.1:p.Asp328AlafsTer?
NM_001135697.2:c.609_610dup	NP_001129169.1:p.Asp204AlafsTer?
NR_135553.1:n.828_829dup
XM_011525120.2:c.1143_1144dup	XP_011523422.2:p.Asp382AlafsTer?
XM_011525121.2:c.993_994dup	XP_011523423.2:p.Asp332AlafsTer?
XM_011525122.2:c.934_935dup	XP_011523424.2:p.His313AspfsTer?
XM_011525123.2:c.771_772dup	XP_011523425.2:p.Asp258AlafsTer?
XM_011525124.2:c.675_676dup	XP_011523426.1:p.Asp226AlafsTer?
XM_024450873.1:c.675_676dup	XP_024306641.1:p.Asp226AlafsTer?
XR_002958056.1:n.1578_1579dup
NM_000023.4:c.981_982dup MANE Select	NP_000014.1:p.Asp328AlafsTer?
NM_001135697.3:c.609_610dup	NP_001129169.1:p.Asp204AlafsTer?
NR_135553.2:n.808_809dup