Canonical Allele Identifier: CA626689180

Gene: SGCA

Linked Data

• dbSNP Id: rs1345929320
• gnomAD v2: 17-48244730-TCTC-T
• gnomAD v4: 17-50167369-TCTC-T
• MyVariant Identifiers: chr17:g.48244731_48244733del (hg19) ; chr17:g.50167370_50167372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167372_50167374del , CM000679.2:g.50167372_50167374del	GRCh38
NC_000017.10:g.48244733_48244735del , CM000679.1:g.48244733_48244735del	GRCh37
NC_000017.9:g.45599732_45599734del	NCBI36
NG_008889.1:g.6368_6370del , LRG_203:g.6368_6370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.42_44del	ENSP00000422030.2:p.Leu15del
ENST00000511303.6:n.38-575_38-573del
ENST00000512526.2:c.42_44del	ENSP00000426606.2:p.Leu15del
ENST00000682109.1:c.38-210_38-208del	ENSP00000508041.1:n.38-210_38-208del
ENST00000683294.1:c.42_44del	ENSP00000508134.1:p.Leu15del
ENST00000262018.8:c.42_44del MANE Select	ENSP00000262018.3:p.Leu15del
ENST00000262018.7:c.42_44del	ENSP00000262018.3:p.Leu15del
ENST00000344627.10:c.42_44del	ENSP00000345522.6:p.Leu15del
ENST00000502555.5:c.42_44del	ENSP00000422817.1:p.Leu15del
ENST00000511303.5:c.34-575_34-573del	ENSP00000426104.1:n.34-575_34-573del
ENST00000513821.5:c.42_44del	ENSP00000426571.1:p.Leu15del
ENST00000513942.5:n.104-575_104-573del
ENST00000514934.1:c.101_103del	ENSP00000423168.1:p.Ser34del
NM_000023.2:c.42_44del , LRG_203t1:c.42_44del	NP_000014.1:p.Leu15del
NM_001135697.1:c.42_44del	NP_001129169.1:p.Leu15del
XM_011525120.1:c.42_44del	XP_011523422.1:p.Leu15del
XM_011525121.1:c.42_44del	XP_011523423.1:p.Leu15del
XM_011525122.1:c.42_44del	XP_011523424.1:p.Leu15del
XM_011525123.1:c.42_44del	XP_011523425.1:p.Leu15del
XM_011525124.1:c.-110_-108del	XP_011523426.1:n.-110_-108del
XR_934517.1:n.108_110del
NM_000023.3:c.42_44del	NP_000014.1:p.Leu15del
NM_001135697.2:c.42_44del	NP_001129169.1:p.Leu15del
NR_135553.1:n.98_100del
XM_011525120.2:c.204_206del	XP_011523422.2:p.Leu69del
XM_011525121.2:c.204_206del	XP_011523423.2:p.Leu69del
XM_011525122.2:c.204_206del	XP_011523424.2:p.Leu69del
XM_011525123.2:c.204_206del	XP_011523425.2:p.Leu69del
XM_011525124.2:c.-110_-108del	XP_011523426.1:n.-110_-108del
XM_024450873.1:c.-110_-108del	XP_024306641.1:n.-110_-108del
XR_002958056.1:n.560_562del
NM_000023.4:c.42_44del MANE Select	NP_000014.1:p.Leu15del
NM_001135697.3:c.42_44del	NP_001129169.1:p.Leu15del
NR_135553.2:n.78_80del