Canonical Allele Identifier: CA2697560327

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168546_50168547del , CM000679.2:g.50168546_50168547del	GRCh38
NC_000017.10:g.48245907_48245908del , CM000679.1:g.48245907_48245908del	GRCh37
NC_000017.9:g.45600906_45600907del	NCBI36
NG_008889.1:g.7542_7543del , LRG_203:g.7542_7543del

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.558_559del MANE Select	NP_000014.1:p.Leu187SerfsTer3
ENST00000262018.8:c.558_559del MANE Select	ENSP00000262018.3:p.Leu187SerfsTer3
NM_000023.2:c.558_559del , LRG_203t1:c.558_559del	NP_000014.1:p.Leu187SerfsTer3
NM_000023.3:c.558_559del	NP_000014.1:p.Leu187SerfsTer3
NM_001135697.1:c.558_559del	NP_001129169.1:p.Leu187SerfsTer3
NM_001135697.2:c.558_559del	NP_001129169.1:p.Leu187SerfsTer3
NM_001135697.3:c.558_559del	NP_001129169.1:p.Leu187SerfsTer3
NR_135553.1:n.614_615del
NR_135553.2:n.594_595del
ENST00000262018.7:c.558_559del	ENSP00000262018.3:p.Leu187SerfsTer3
ENST00000344627.10:c.558_559del	ENSP00000345522.6:p.Leu187SerfsTer3
ENST00000502555.5:c.*217_*218del	ENSP00000422817.1:n.*217_*218del
ENST00000504073.1:c.25_26del
ENST00000504073.2:c.558_559del	ENSP00000422030.2:p.Leu187SerfsTer3
ENST00000511303.5:c.279_280del	ENSP00000426104.1:p.Leu94SerfsTer3
ENST00000511303.6:n.283_284del
ENST00000512526.1:c.393_394del
ENST00000512526.2:c.549_550del	ENSP00000426606.2:n.549_550del
ENST00000513821.5:c.558_559del	ENSP00000426571.1:p.Leu187SerfsTer3
ENST00000513942.5:n.349_350del
ENST00000514934.1:c.*264_*265del	ENSP00000423168.1:n.*264_*265del
ENST00000682109.1:c.438_439del	ENSP00000508041.1:p.Leu147SerfsTer3
ENST00000683226.1:n.268_269del
ENST00000683294.1:c.558_559del	ENSP00000508134.1:p.Leu187SerfsTer3
XM_011525120.1:c.558_559del	XP_011523422.1:p.Leu187SerfsTer3
XM_011525120.2:c.720_721del	XP_011523422.2:p.Leu241SerfsTer3
XM_011525121.1:c.558_559del	XP_011523423.1:p.Leu187SerfsTer3
XM_011525121.2:c.720_721del	XP_011523423.2:p.Leu241SerfsTer3
XM_011525122.1:c.558_559del	XP_011523424.1:p.Leu187SerfsTer3
XM_011525122.2:c.720_721del	XP_011523424.2:p.Leu241SerfsTer3
XM_011525123.1:c.558_559del	XP_011523425.1:p.Leu187SerfsTer3
XM_011525123.2:c.720_721del	XP_011523425.2:p.Leu241SerfsTer3
XM_011525124.1:c.252_253del	XP_011523426.1:p.Leu85SerfsTer3
XM_011525124.2:c.252_253del	XP_011523426.1:p.Leu85SerfsTer3
XM_024450873.1:c.252_253del	XP_024306641.1:p.Leu85SerfsTer3
XR_002958056.1:n.1076_1077del
XR_934517.1:n.624_625del