Canonical Allele Identifier: CA626689324
Community Standard Title: NM_000023.4(SGCA):c.1153_1163del (p.Asp385ThrfsTer3)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50175426_50175436del , CM000679.2:g.50175426_50175436del GRCh38
NC_000017.10:g.48252787_48252797del , CM000679.1:g.48252787_48252797del GRCh37
NC_000017.9:g.45607786_45607796del NCBI36
NG_008889.1:g.14422_14432del , LRG_203:g.14422_14432del

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.1153_1163del (SGCA) MANE Select NP_000014.1:p.Asp385ThrfsTer3
ENST00000262018.8:c.1153_1163del (SGCA) MANE Select ENSP00000262018.3:p.Asp385ThrfsTer3
NM_000023.2:c.1153_1163del , LRG_203t1:c.1153_1163del (SGCA) NP_000014.1:p.Asp385ThrfsTer?
NM_000023.3:c.1153_1163del (SGCA) NP_000014.1:p.Asp385ThrfsTer?
NM_001135697.1:c.781_791del (SGCA) NP_001129169.1:p.Asp261ThrfsTer?
NM_001135697.2:c.781_791del (SGCA) NP_001129169.1:p.Asp261ThrfsTer?
NM_001135697.3:c.781_791del (SGCA) NP_001129169.1:p.Asp261ThrfsTer3
NR_135553.1:n.1000_1010del (SGCA)
NR_135553.2:n.980_990del (SGCA)
ENST00000262018.7:c.1153_1163del (SGCA) ENSP00000262018.3:p.Asp385ThrfsTer3
ENST00000344627.10:c.781_791del (SGCA) ENSP00000345522.6:p.Asp261ThrfsTer3
ENST00000504073.1:c.470_480del (SGCA)
ENST00000504073.2:c.1003_1013del (SGCA) ENSP00000422030.2:p.Asp335ThrfsTer3
ENST00000504307.1:n.470-3256_470-3246del (H1-9P)
ENST00000504307.2:n.492-3256_492-3246del (H1-9P)
ENST00000504307.3:n.547-3256_547-3246del (H1-9P)
ENST00000505964.1:n.254_264del (SGCA)
ENST00000508382.1:n.198_208del (SGCA)
ENST00000511303.5:c.451+51_451+61del (SGCA) ENSP00000426104.1:n.451+51_451+61del
ENST00000511303.6:n.455+51_455+61del (SGCA)
ENST00000513821.5:c.*47_*57del (SGCA) ENSP00000426571.1:n.*47_*57del
ENST00000513942.5:n.572_582del (SGCA)
ENST00000682109.1:c.1033_1043del (SGCA) ENSP00000508041.1:p.Asp345=
ENST00000683226.1:n.1751_1761del (SGCA)
ENST00000683294.1:c.*256_*266del (SGCA) ENSP00000508134.1:n.*256_*266del
ENST00000683544.1:n.807_817del (SGCA)
XM_011525120.1:c.1102+51_1102+61del (SGCA) XP_011523422.1:n.1102+51_1102+61del
XM_011525120.2:c.1264+51_1264+61del (SGCA) XP_011523422.2:n.1264+51_1264+61del
XM_011525121.1:c.952+51_952+61del (SGCA) XP_011523423.1:n.952+51_952+61del
XM_011525121.2:c.1114+51_1114+61del (SGCA) XP_011523423.2:n.1114+51_1114+61del
XM_011525122.1:c.893+51_893+61del (SGCA) XP_011523424.1:n.893+51_893+61del
XM_011525122.2:c.1055+51_1055+61del (SGCA) XP_011523424.2:n.1055+51_1055+61del
XM_011525123.1:c.730+51_730+61del (SGCA) XP_011523425.1:n.730+51_730+61del
XM_011525123.2:c.892+51_892+61del (SGCA) XP_011523425.2:n.892+51_892+61del
XM_011525124.1:c.796+51_796+61del (SGCA) XP_011523426.1:n.796+51_796+61del
XM_011525124.2:c.796+51_796+61del (SGCA) XP_011523426.1:n.796+51_796+61del
XM_024450873.1:c.847_857del (SGCA) XP_024306641.1:p.Asp283ThrfsTer3
XR_002958056.1:n.1750_1760del (SGCA)
XR_934517.1:n.1010_1020del (SGCA)