Canonical Allele Identifier: CA772758508

Gene: SGCA

Linked Data

• dbSNP Id: rs1464768925
• gnomAD v3: 17-50167831-CATTTACATATA-C
• gnomAD v4: 17-50167831-CATTTACATATA-C
• MyVariant Identifiers: chr17:g.48245193_48245203del (hg19) ; chr17:g.50167832_50167842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167841_50167851del , CM000679.2:g.50167841_50167851del	GRCh38
NC_000017.10:g.48245202_48245212del , CM000679.1:g.48245202_48245212del	GRCh37
NC_000017.9:g.45600201_45600211del	NCBI36
NG_008889.1:g.6837_6847del , LRG_203:g.6837_6847del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.313-106_313-96del	ENSP00000422030.2:n.313-106_313-96del
ENST00000511303.6:n.38-106_38-96del
ENST00000512526.2:c.304-106_304-96del	ENSP00000426606.2:n.304-106_304-96del
ENST00000682109.1:c.193-106_193-96del	ENSP00000508041.1:n.193-106_193-96del
ENST00000683226.1:n.23-106_23-96del
ENST00000683294.1:c.313-106_313-96del	ENSP00000508134.1:n.313-106_313-96del
ENST00000262018.8:c.313-106_313-96del MANE Select	ENSP00000262018.3:n.313-106_313-96del
ENST00000262018.7:c.313-106_313-96del	ENSP00000262018.3:n.313-106_313-96del
ENST00000344627.10:c.313-106_313-96del	ENSP00000345522.6:n.313-106_313-96del
ENST00000502555.5:c.158-106_158-96del	ENSP00000422817.1:n.158-106_158-96del
ENST00000511303.5:c.34-106_34-96del	ENSP00000426104.1:n.34-106_34-96del
ENST00000512526.1:c.148-106_148-96del
ENST00000513821.5:c.313-106_313-96del	ENSP00000426571.1:n.313-106_313-96del
ENST00000513942.5:n.104-106_104-96del
ENST00000514934.1:c.*19-106_*19-96del	ENSP00000423168.1:n.*19-106_*19-96del
NM_000023.2:c.313-106_313-96del , LRG_203t1:c.313-106_313-96del	NP_000014.1:n.313-106_313-96del
NM_001135697.1:c.313-106_313-96del	NP_001129169.1:n.313-106_313-96del
XM_011525120.1:c.313-106_313-96del	XP_011523422.1:n.313-106_313-96del
XM_011525121.1:c.313-106_313-96del	XP_011523423.1:n.313-106_313-96del
XM_011525122.1:c.313-106_313-96del	XP_011523424.1:n.313-106_313-96del
XM_011525123.1:c.313-106_313-96del	XP_011523425.1:n.313-106_313-96del
XM_011525124.1:c.7-106_7-96del	XP_011523426.1:n.7-106_7-96del
XR_934517.1:n.379-106_379-96del
NM_000023.3:c.313-106_313-96del	NP_000014.1:n.313-106_313-96del
NM_001135697.2:c.313-106_313-96del	NP_001129169.1:n.313-106_313-96del
NR_135553.1:n.369-106_369-96del
XM_011525120.2:c.475-106_475-96del	XP_011523422.2:n.475-106_475-96del
XM_011525121.2:c.475-106_475-96del	XP_011523423.2:n.475-106_475-96del
XM_011525122.2:c.475-106_475-96del	XP_011523424.2:n.475-106_475-96del
XM_011525123.2:c.475-106_475-96del	XP_011523425.2:n.475-106_475-96del
XM_011525124.2:c.7-106_7-96del	XP_011523426.1:n.7-106_7-96del
XM_024450873.1:c.7-106_7-96del	XP_024306641.1:n.7-106_7-96del
XR_002958056.1:n.831-106_831-96del
NM_000023.4:c.313-106_313-96del MANE Select	NP_000014.1:n.313-106_313-96del
NM_001135697.3:c.313-106_313-96del	NP_001129169.1:n.313-106_313-96del
NR_135553.2:n.349-106_349-96del