Canonical Allele Identifier: CA626689234

Gene: SGCA

Linked Data

• dbSNP Id: rs1256473631
• gnomAD v2: 17-48245639-A-AGG
• gnomAD v3: 17-50168278-A-AGG
• gnomAD v4: 17-50168278-A-AGG
• MyVariant Identifiers: chr17:g.48245639_48245640insGG (hg19) ; chr17:g.50168278_50168279insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168281_50168282dup , CM000679.2:g.50168281_50168282dup	GRCh38
NC_000017.10:g.48245642_48245643dup , CM000679.1:g.48245642_48245643dup	GRCh37
NC_000017.9:g.45600641_45600642dup	NCBI36
NG_008889.1:g.7277_7278dup , LRG_203:g.7277_7278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.386-93_386-92dup	ENSP00000422030.2:n.386-93_386-92dup
ENST00000511303.6:n.111-93_111-92dup
ENST00000512526.2:c.377-93_377-92dup	ENSP00000426606.2:n.377-93_377-92dup
ENST00000682109.1:c.266-93_266-92dup	ENSP00000508041.1:n.266-93_266-92dup
ENST00000683226.1:n.96-93_96-92dup
ENST00000683294.1:c.386-93_386-92dup	ENSP00000508134.1:n.386-93_386-92dup
ENST00000262018.8:c.386-93_386-92dup MANE Select	ENSP00000262018.3:n.386-93_386-92dup
ENST00000262018.7:c.386-93_386-92dup	ENSP00000262018.3:n.386-93_386-92dup
ENST00000344627.10:c.386-93_386-92dup	ENSP00000345522.6:n.386-93_386-92dup
ENST00000502555.5:c.*45-93_*45-92dup	ENSP00000422817.1:n.*45-93_*45-92dup
ENST00000511303.5:c.107-93_107-92dup	ENSP00000426104.1:n.107-93_107-92dup
ENST00000512526.1:c.221-93_221-92dup
ENST00000513821.5:c.386-93_386-92dup	ENSP00000426571.1:n.386-93_386-92dup
ENST00000513942.5:n.177-93_177-92dup
ENST00000514934.1:c.*92-93_*92-92dup	ENSP00000423168.1:n.*92-93_*92-92dup
NM_000023.2:c.386-93_386-92dup , LRG_203t1:c.386-93_386-92dup	NP_000014.1:n.386-93_386-92dup
NM_001135697.1:c.386-93_386-92dup	NP_001129169.1:n.386-93_386-92dup
XM_011525120.1:c.386-93_386-92dup	XP_011523422.1:n.386-93_386-92dup
XM_011525121.1:c.386-93_386-92dup	XP_011523423.1:n.386-93_386-92dup
XM_011525122.1:c.386-93_386-92dup	XP_011523424.1:n.386-93_386-92dup
XM_011525123.1:c.386-93_386-92dup	XP_011523425.1:n.386-93_386-92dup
XM_011525124.1:c.80-93_80-92dup	XP_011523426.1:n.80-93_80-92dup
XR_934517.1:n.452-93_452-92dup
NM_000023.3:c.386-93_386-92dup	NP_000014.1:n.386-93_386-92dup
NM_001135697.2:c.386-93_386-92dup	NP_001129169.1:n.386-93_386-92dup
NR_135553.1:n.442-93_442-92dup
XM_011525120.2:c.548-93_548-92dup	XP_011523422.2:n.548-93_548-92dup
XM_011525121.2:c.548-93_548-92dup	XP_011523423.2:n.548-93_548-92dup
XM_011525122.2:c.548-93_548-92dup	XP_011523424.2:n.548-93_548-92dup
XM_011525123.2:c.548-93_548-92dup	XP_011523425.2:n.548-93_548-92dup
XM_011525124.2:c.80-93_80-92dup	XP_011523426.1:n.80-93_80-92dup
XM_024450873.1:c.80-93_80-92dup	XP_024306641.1:n.80-93_80-92dup
XR_002958056.1:n.904-93_904-92dup
NM_000023.4:c.386-93_386-92dup MANE Select	NP_000014.1:n.386-93_386-92dup
NM_001135697.3:c.386-93_386-92dup	NP_001129169.1:n.386-93_386-92dup
NR_135553.2:n.422-93_422-92dup