Canonical Allele Identifier: CA2263905222
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167765_50167766delinsAG , CM000679.2:g.50167765_50167766delinsAG GRCh38
NC_000017.10:g.48245126_48245127delinsAG , CM000679.1:g.48245126_48245127delinsAG GRCh37
NC_000017.9:g.45600125_45600126delinsAG NCBI36
NG_008889.1:g.6761_6762delinsAG , LRG_203:g.6761_6762delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.312+29_312+30delinsAG ENSP00000422030.2:n.312+29_312+30delinsAG
ENST00000511303.6:n.38-182_38-181delinsAG
ENST00000512526.2:c.303+38_303+39delinsAG ENSP00000426606.2:n.303+38_303+39delinsAG
ENST00000682109.1:c.192+29_192+30delinsAG ENSP00000508041.1:n.192+29_192+30delinsAG
ENST00000683226.1:n.22+29_22+30delinsAG
ENST00000683294.1:c.312+29_312+30delinsAG ENSP00000508134.1:n.312+29_312+30delinsAG
ENST00000262018.8:c.312+29_312+30delinsAG MANE Select ENSP00000262018.3:n.312+29_312+30delinsAG
ENST00000262018.7:c.312+29_312+30delinsAG ENSP00000262018.3:n.312+29_312+30delinsAG
ENST00000344627.10:c.312+29_312+30delinsAG ENSP00000345522.6:n.312+29_312+30delinsAG
ENST00000502555.5:c.158-182_158-181delinsAG ENSP00000422817.1:n.158-182_158-181delinsAG
ENST00000511303.5:c.34-182_34-181delinsAG ENSP00000426104.1:n.34-182_34-181delinsAG
ENST00000512526.1:c.147+38_147+39delinsAG
ENST00000513821.5:c.312+29_312+30delinsAG ENSP00000426571.1:n.312+29_312+30delinsAG
ENST00000513942.5:n.104-182_104-181delinsAG
ENST00000514934.1:c.*19-182_*19-181delinsAG ENSP00000423168.1:n.*19-182_*19-181delinsAG
NM_000023.2:c.312+29_312+30delinsAG , LRG_203t1:c.312+29_312+30delinsAG NP_000014.1:n.312+29_312+30delinsAG
NM_001135697.1:c.312+29_312+30delinsAG NP_001129169.1:n.312+29_312+30delinsAG
XM_011525120.1:c.312+29_312+30delinsAG XP_011523422.1:n.312+29_312+30delinsAG
XM_011525121.1:c.312+29_312+30delinsAG XP_011523423.1:n.312+29_312+30delinsAG
XM_011525122.1:c.312+29_312+30delinsAG XP_011523424.1:n.312+29_312+30delinsAG
XM_011525123.1:c.312+29_312+30delinsAG XP_011523425.1:n.312+29_312+30delinsAG
XM_011525124.1:c.7-182_7-181delinsAG XP_011523426.1:n.7-182_7-181delinsAG
XR_934517.1:n.378+29_378+30delinsAG
NM_000023.3:c.312+29_312+30delinsAG NP_000014.1:n.312+29_312+30delinsAG
NM_001135697.2:c.312+29_312+30delinsAG NP_001129169.1:n.312+29_312+30delinsAG
NR_135553.1:n.368+29_368+30delinsAG
XM_011525120.2:c.474+29_474+30delinsAG XP_011523422.2:n.474+29_474+30delinsAG
XM_011525121.2:c.474+29_474+30delinsAG XP_011523423.2:n.474+29_474+30delinsAG
XM_011525122.2:c.474+29_474+30delinsAG XP_011523424.2:n.474+29_474+30delinsAG
XM_011525123.2:c.474+29_474+30delinsAG XP_011523425.2:n.474+29_474+30delinsAG
XM_011525124.2:c.7-182_7-181delinsAG XP_011523426.1:n.7-182_7-181delinsAG
XM_024450873.1:c.7-182_7-181delinsAG XP_024306641.1:n.7-182_7-181delinsAG
XR_002958056.1:n.830+29_830+30delinsAG
NM_000023.4:c.312+29_312+30delinsAG MANE Select NP_000014.1:n.312+29_312+30delinsAG
NM_001135697.3:c.312+29_312+30delinsAG NP_001129169.1:n.312+29_312+30delinsAG
NR_135553.2:n.348+29_348+30delinsAG