Canonical Allele Identifier: CA2263905281

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167831_50167842delinsCATTTACATATA , CM000679.2:g.50167831_50167842delinsCATTTACATATA	GRCh38
NC_000017.10:g.48245192_48245203delinsCATTTACATATA , CM000679.1:g.48245192_48245203delinsCATTTACATATA	GRCh37
NC_000017.9:g.45600191_45600202delinsCATTTACATATA	NCBI36
NG_008889.1:g.6827_6838delinsCATTTACATATA , LRG_203:g.6827_6838delinsCATTTACATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.312+95_313-105delinsCATTTACATATA	ENSP00000422030.2:n.312+95_313-105delinsCATTTACATATA
ENST00000511303.6:n.38-116_38-105delinsCATTTACATATA
ENST00000512526.2:c.303+104_304-105delinsCATTTACATATA	ENSP00000426606.2:n.303+104_304-105delinsCATTTACATATA
ENST00000682109.1:c.192+95_193-105delinsCATTTACATATA	ENSP00000508041.1:n.192+95_193-105delinsCATTTACATATA
ENST00000683226.1:n.22+95_23-105delinsCATTTACATATA
ENST00000683294.1:c.312+95_313-105delinsCATTTACATATA	ENSP00000508134.1:n.312+95_313-105delinsCATTTACATATA
ENST00000262018.8:c.312+95_313-105delinsCATTTACATATA MANE Select	ENSP00000262018.3:n.312+95_313-105delinsCATTTACATATA
ENST00000262018.7:c.312+95_313-105delinsCATTTACATATA	ENSP00000262018.3:n.312+95_313-105delinsCATTTACATATA
ENST00000344627.10:c.312+95_313-105delinsCATTTACATATA	ENSP00000345522.6:n.312+95_313-105delinsCATTTACATATA
ENST00000502555.5:c.158-116_158-105delinsCATTTACATATA	ENSP00000422817.1:n.158-116_158-105delinsCATTTACATATA
ENST00000511303.5:c.34-116_34-105delinsCATTTACATATA	ENSP00000426104.1:n.34-116_34-105delinsCATTTACATATA
ENST00000512526.1:c.147+104_148-105delinsCATTTACATATA
ENST00000513821.5:c.312+95_313-105delinsCATTTACATATA	ENSP00000426571.1:n.312+95_313-105delinsCATTTACATATA
ENST00000513942.5:n.104-116_104-105delinsCATTTACATATA
ENST00000514934.1:c.*19-116_*19-105delinsCATTTACATATA	ENSP00000423168.1:n.*19-116_*19-105delinsCATTTACATATA
NM_000023.2:c.312+95_313-105delinsCATTTACATATA , LRG_203t1:c.312+95_313-105delinsCATTTACATATA	NP_000014.1:n.312+95_313-105delinsCATTTACATATA
NM_001135697.1:c.312+95_313-105delinsCATTTACATATA	NP_001129169.1:n.312+95_313-105delinsCATTTACATATA
XM_011525120.1:c.312+95_313-105delinsCATTTACATATA	XP_011523422.1:n.312+95_313-105delinsCATTTACATATA
XM_011525121.1:c.312+95_313-105delinsCATTTACATATA	XP_011523423.1:n.312+95_313-105delinsCATTTACATATA
XM_011525122.1:c.312+95_313-105delinsCATTTACATATA	XP_011523424.1:n.312+95_313-105delinsCATTTACATATA
XM_011525123.1:c.312+95_313-105delinsCATTTACATATA	XP_011523425.1:n.312+95_313-105delinsCATTTACATATA
XM_011525124.1:c.7-116_7-105delinsCATTTACATATA	XP_011523426.1:n.7-116_7-105delinsCATTTACATATA
XR_934517.1:n.378+95_379-105delinsCATTTACATATA
NM_000023.3:c.312+95_313-105delinsCATTTACATATA	NP_000014.1:n.312+95_313-105delinsCATTTACATATA
NM_001135697.2:c.312+95_313-105delinsCATTTACATATA	NP_001129169.1:n.312+95_313-105delinsCATTTACATATA
NR_135553.1:n.368+95_369-105delinsCATTTACATATA
XM_011525120.2:c.474+95_475-105delinsCATTTACATATA	XP_011523422.2:n.474+95_475-105delinsCATTTACATATA
XM_011525121.2:c.474+95_475-105delinsCATTTACATATA	XP_011523423.2:n.474+95_475-105delinsCATTTACATATA
XM_011525122.2:c.474+95_475-105delinsCATTTACATATA	XP_011523424.2:n.474+95_475-105delinsCATTTACATATA
XM_011525123.2:c.474+95_475-105delinsCATTTACATATA	XP_011523425.2:n.474+95_475-105delinsCATTTACATATA
XM_011525124.2:c.7-116_7-105delinsCATTTACATATA	XP_011523426.1:n.7-116_7-105delinsCATTTACATATA
XM_024450873.1:c.7-116_7-105delinsCATTTACATATA	XP_024306641.1:n.7-116_7-105delinsCATTTACATATA
XR_002958056.1:n.830+95_831-105delinsCATTTACATATA
NM_000023.4:c.312+95_313-105delinsCATTTACATATA MANE Select	NP_000014.1:n.312+95_313-105delinsCATTTACATATA
NM_001135697.3:c.312+95_313-105delinsCATTTACATATA	NP_001129169.1:n.312+95_313-105delinsCATTTACATATA
NR_135553.2:n.348+95_349-105delinsCATTTACATATA