Canonical Allele Identifier: CA2263905113

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167383_50167384delinsTG , CM000679.2:g.50167383_50167384delinsTG	GRCh38
NC_000017.10:g.48244744_48244745delinsTG , CM000679.1:g.48244744_48244745delinsTG	GRCh37
NC_000017.9:g.45599743_45599744delinsTG	NCBI36
NG_008889.1:g.6379_6380delinsTG , LRG_203:g.6379_6380delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.53_54delinsTG	ENSP00000422030.2:p.Leu18=
ENST00000511303.6:n.38-564_38-563delinsTG
ENST00000512526.2:c.53_54delinsTG	ENSP00000426606.2:p.Leu18=
ENST00000682109.1:c.38-199_38-198delinsTG	ENSP00000508041.1:n.38-199_38-198delinsTG
ENST00000683294.1:c.53_54delinsTG	ENSP00000508134.1:p.Leu18=
ENST00000262018.8:c.53_54delinsTG MANE Select	ENSP00000262018.3:p.Leu18=
ENST00000262018.7:c.53_54delinsTG	ENSP00000262018.3:p.Leu18=
ENST00000344627.10:c.53_54delinsTG	ENSP00000345522.6:p.Leu18=
ENST00000502555.5:c.53_54delinsTG	ENSP00000422817.1:p.Leu18=
ENST00000511303.5:c.34-564_34-563delinsTG	ENSP00000426104.1:n.34-564_34-563delinsTG
ENST00000513821.5:c.53_54delinsTG	ENSP00000426571.1:p.Leu18=
ENST00000513942.5:n.104-564_104-563delinsTG
ENST00000514934.1:c.112_113delinsTG	ENSP00000423168.1:p.Trp38=
NM_000023.2:c.53_54delinsTG , LRG_203t1:c.53_54delinsTG	NP_000014.1:p.Leu18=
NM_001135697.1:c.53_54delinsTG	NP_001129169.1:p.Leu18=
XM_011525120.1:c.53_54delinsTG	XP_011523422.1:p.Leu18=
XM_011525121.1:c.53_54delinsTG	XP_011523423.1:p.Leu18=
XM_011525122.1:c.53_54delinsTG	XP_011523424.1:p.Leu18=
XM_011525123.1:c.53_54delinsTG	XP_011523425.1:p.Leu18=
XM_011525124.1:c.-99_-98delinsTG	XP_011523426.1:n.-99_-98delinsTG
XR_934517.1:n.119_120delinsTG
NM_000023.3:c.53_54delinsTG	NP_000014.1:p.Leu18=
NM_001135697.2:c.53_54delinsTG	NP_001129169.1:p.Leu18=
NR_135553.1:n.109_110delinsTG
XM_011525120.2:c.215_216delinsTG	XP_011523422.2:p.Leu72=
XM_011525121.2:c.215_216delinsTG	XP_011523423.2:p.Leu72=
XM_011525122.2:c.215_216delinsTG	XP_011523424.2:p.Leu72=
XM_011525123.2:c.215_216delinsTG	XP_011523425.2:p.Leu72=
XM_011525124.2:c.-99_-98delinsTG	XP_011523426.1:n.-99_-98delinsTG
XM_024450873.1:c.-99_-98delinsTG	XP_024306641.1:n.-99_-98delinsTG
XR_002958056.1:n.571_572delinsTG
NM_000023.4:c.53_54delinsTG MANE Select	NP_000014.1:p.Leu18=
NM_001135697.3:c.53_54delinsTG	NP_001129169.1:p.Leu18=
NR_135553.2:n.89_90delinsTG