Canonical Allele Identifier: CA2638707566

Gene: SGCA

Linked Data

• gnomAD v4: 17-50170067-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170069del , CM000679.2:g.50170069del	GRCh38
NC_000017.10:g.48247430del , CM000679.1:g.48247430del	GRCh37
NC_000017.9:g.45602429del	NCBI36
NG_008889.1:g.9065del , LRG_203:g.9065del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-74del	ENSP00000422030.2:n.598-74del
ENST00000511303.6:n.310-571del
ENST00000512526.2:c.576-571del	ENSP00000426606.2:n.576-571del
ENST00000682109.1:c.628-74del	ENSP00000508041.1:n.628-74del
ENST00000683226.1:n.1272del
ENST00000683294.1:c.753del	ENSP00000508134.1:p.Trp251CysfsTer?
ENST00000683544.1:n.40del
ENST00000262018.8:c.748-74del MANE Select	ENSP00000262018.3:n.748-74del
ENST00000262018.7:c.748-74del	ENSP00000262018.3:n.748-74del
ENST00000344627.10:c.585-571del	ENSP00000345522.6:n.585-571del
ENST00000504073.1:c.65-74del
ENST00000511303.5:c.306-571del	ENSP00000426104.1:n.306-571del
ENST00000512526.1:c.420-571del
ENST00000513821.5:c.748-571del	ENSP00000426571.1:n.748-571del
ENST00000513942.5:n.376-571del
NM_000023.2:c.748-74del , LRG_203t1:c.748-74del	NP_000014.1:n.748-74del
NM_001135697.1:c.585-571del	NP_001129169.1:n.585-571del
XM_011525120.1:c.748-74del	XP_011523422.1:n.748-74del
XM_011525121.1:c.598-74del	XP_011523423.1:n.598-74del
XM_011525122.1:c.748-571del	XP_011523424.1:n.748-571del
XM_011525123.1:c.585-571del	XP_011523425.1:n.585-571del
XM_011525124.1:c.442-74del	XP_011523426.1:n.442-74del
XR_934517.1:n.814-571del
NM_000023.3:c.748-74del	NP_000014.1:n.748-74del
NM_001135697.2:c.585-571del	NP_001129169.1:n.585-571del
NR_135553.1:n.804-571del
XM_011525120.2:c.910-74del	XP_011523422.2:n.910-74del
XM_011525121.2:c.760-74del	XP_011523423.2:n.760-74del
XM_011525122.2:c.910-571del	XP_011523424.2:n.910-571del
XM_011525123.2:c.747-571del	XP_011523425.2:n.747-571del
XM_011525124.2:c.442-74del	XP_011523426.1:n.442-74del
XM_024450873.1:c.442-74del	XP_024306641.1:n.442-74del
XR_002958056.1:n.1271del
NM_000023.4:c.748-74del MANE Select	NP_000014.1:n.748-74del
NM_001135697.3:c.585-571del	NP_001129169.1:n.585-571del
NR_135553.2:n.784-571del