Canonical Allele Identifier: CA2638707504

Gene: SGCA

Linked Data

• gnomAD v4: 17-50170019-T-TGCACTGGTTAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170025_50170026insGTTAGCGCACTG , CM000679.2:g.50170025_50170026insGTTAGCGCACTG	GRCh38
NC_000017.10:g.48247386_48247387insGTTAGCGCACTG , CM000679.1:g.48247386_48247387insGTTAGCGCACTG	GRCh37
NC_000017.9:g.45602385_45602386insGTTAGCGCACTG	NCBI36
NG_008889.1:g.9021_9022insGTTAGCGCACTG , LRG_203:g.9021_9022insGTTAGCGCACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.598-118_598-117insGTTAGCGCACTG	ENSP00000422030.2:n.598-118_598-117insGTTAGCGCACTG
ENST00000511303.6:n.310-615_310-614insGTTAGCGCACTG
ENST00000512526.2:c.576-615_576-614insGTTAGCGCACTG	ENSP00000426606.2:n.576-615_576-614insGTTAGCGCACTG
ENST00000682109.1:c.628-118_628-117insGTTAGCGCACTG	ENSP00000508041.1:n.628-118_628-117insGTTAGCGCACTG
ENST00000683226.1:n.1228_1229insGTTAGCGCACTG
ENST00000683294.1:c.748-39_748-38insGTTAGCGCACTG	ENSP00000508134.1:n.748-39_748-38insGTTAGCGCACTG
ENST00000262018.8:c.748-118_748-117insGTTAGCGCACTG MANE Select	ENSP00000262018.3:n.748-118_748-117insGTTAGCGCACTG
ENST00000262018.7:c.748-118_748-117insGTTAGCGCACTG	ENSP00000262018.3:n.748-118_748-117insGTTAGCGCACTG
ENST00000344627.10:c.585-615_585-614insGTTAGCGCACTG	ENSP00000345522.6:n.585-615_585-614insGTTAGCGCACTG
ENST00000504073.1:c.65-118_65-117insGTTAGCGCACTG
ENST00000511303.5:c.306-615_306-614insGTTAGCGCACTG	ENSP00000426104.1:n.306-615_306-614insGTTAGCGCACTG
ENST00000512526.1:c.420-615_420-614insGTTAGCGCACTG
ENST00000513821.5:c.748-615_748-614insGTTAGCGCACTG	ENSP00000426571.1:n.748-615_748-614insGTTAGCGCACTG
ENST00000513942.5:n.376-615_376-614insGTTAGCGCACTG
NM_000023.2:c.748-118_748-117insGTTAGCGCACTG , LRG_203t1:c.748-118_748-117insGTTAGCGCACTG	NP_000014.1:n.748-118_748-117insGTTAGCGCACTG
NM_001135697.1:c.585-615_585-614insGTTAGCGCACTG	NP_001129169.1:n.585-615_585-614insGTTAGCGCACTG
XM_011525120.1:c.748-118_748-117insGTTAGCGCACTG	XP_011523422.1:n.748-118_748-117insGTTAGCGCACTG
XM_011525121.1:c.598-118_598-117insGTTAGCGCACTG	XP_011523423.1:n.598-118_598-117insGTTAGCGCACTG
XM_011525122.1:c.748-615_748-614insGTTAGCGCACTG	XP_011523424.1:n.748-615_748-614insGTTAGCGCACTG
XM_011525123.1:c.585-615_585-614insGTTAGCGCACTG	XP_011523425.1:n.585-615_585-614insGTTAGCGCACTG
XM_011525124.1:c.442-118_442-117insGTTAGCGCACTG	XP_011523426.1:n.442-118_442-117insGTTAGCGCACTG
XR_934517.1:n.814-615_814-614insGTTAGCGCACTG
NM_000023.3:c.748-118_748-117insGTTAGCGCACTG	NP_000014.1:n.748-118_748-117insGTTAGCGCACTG
NM_001135697.2:c.585-615_585-614insGTTAGCGCACTG	NP_001129169.1:n.585-615_585-614insGTTAGCGCACTG
NR_135553.1:n.804-615_804-614insGTTAGCGCACTG
XM_011525120.2:c.910-118_910-117insGTTAGCGCACTG	XP_011523422.2:n.910-118_910-117insGTTAGCGCACTG
XM_011525121.2:c.760-118_760-117insGTTAGCGCACTG	XP_011523423.2:n.760-118_760-117insGTTAGCGCACTG
XM_011525122.2:c.910-615_910-614insGTTAGCGCACTG	XP_011523424.2:n.910-615_910-614insGTTAGCGCACTG
XM_011525123.2:c.747-615_747-614insGTTAGCGCACTG	XP_011523425.2:n.747-615_747-614insGTTAGCGCACTG
XM_011525124.2:c.442-118_442-117insGTTAGCGCACTG	XP_011523426.1:n.442-118_442-117insGTTAGCGCACTG
XM_024450873.1:c.442-118_442-117insGTTAGCGCACTG	XP_024306641.1:n.442-118_442-117insGTTAGCGCACTG
XR_002958056.1:n.1266-39_1266-38insGTTAGCGCACTG
NM_000023.4:c.748-118_748-117insGTTAGCGCACTG MANE Select	NP_000014.1:n.748-118_748-117insGTTAGCGCACTG
NM_001135697.3:c.585-615_585-614insGTTAGCGCACTG	NP_001129169.1:n.585-615_585-614insGTTAGCGCACTG
NR_135553.2:n.784-615_784-614insGTTAGCGCACTG