Canonical Allele Identifier: CA2638704115

Gene: SGCA

Linked Data

• gnomAD v4: 17-50167872-TCCTCTCCTGCCAGGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167875_50167891del , CM000679.2:g.50167875_50167891del	GRCh38
NC_000017.10:g.48245236_48245252del , CM000679.1:g.48245236_48245252del	GRCh37
NC_000017.9:g.45600235_45600251del	NCBI36
NG_008889.1:g.6871_6887del , LRG_203:g.6871_6887del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.313-72_313-56del	ENSP00000422030.2:n.313-72_313-56del
ENST00000511303.6:n.38-72_38-56del
ENST00000512526.2:c.304-72_304-56del	ENSP00000426606.2:n.304-72_304-56del
ENST00000682109.1:c.193-72_193-56del	ENSP00000508041.1:n.193-72_193-56del
ENST00000683226.1:n.23-72_23-56del
ENST00000683294.1:c.313-72_313-56del	ENSP00000508134.1:n.313-72_313-56del
ENST00000262018.8:c.313-72_313-56del MANE Select	ENSP00000262018.3:n.313-72_313-56del
ENST00000262018.7:c.313-72_313-56del	ENSP00000262018.3:n.313-72_313-56del
ENST00000344627.10:c.313-72_313-56del	ENSP00000345522.6:n.313-72_313-56del
ENST00000502555.5:c.158-72_158-56del	ENSP00000422817.1:n.158-72_158-56del
ENST00000511303.5:c.34-72_34-56del	ENSP00000426104.1:n.34-72_34-56del
ENST00000512526.1:c.148-72_148-56del
ENST00000513821.5:c.313-72_313-56del	ENSP00000426571.1:n.313-72_313-56del
ENST00000513942.5:n.104-72_104-56del
ENST00000514934.1:c.*19-72_*19-56del	ENSP00000423168.1:n.*19-72_*19-56del
NM_000023.2:c.313-72_313-56del , LRG_203t1:c.313-72_313-56del	NP_000014.1:n.313-72_313-56del
NM_001135697.1:c.313-72_313-56del	NP_001129169.1:n.313-72_313-56del
XM_011525120.1:c.313-72_313-56del	XP_011523422.1:n.313-72_313-56del
XM_011525121.1:c.313-72_313-56del	XP_011523423.1:n.313-72_313-56del
XM_011525122.1:c.313-72_313-56del	XP_011523424.1:n.313-72_313-56del
XM_011525123.1:c.313-72_313-56del	XP_011523425.1:n.313-72_313-56del
XM_011525124.1:c.7-72_7-56del	XP_011523426.1:n.7-72_7-56del
XR_934517.1:n.379-72_379-56del
NM_000023.3:c.313-72_313-56del	NP_000014.1:n.313-72_313-56del
NM_001135697.2:c.313-72_313-56del	NP_001129169.1:n.313-72_313-56del
NR_135553.1:n.369-72_369-56del
XM_011525120.2:c.475-72_475-56del	XP_011523422.2:n.475-72_475-56del
XM_011525121.2:c.475-72_475-56del	XP_011523423.2:n.475-72_475-56del
XM_011525122.2:c.475-72_475-56del	XP_011523424.2:n.475-72_475-56del
XM_011525123.2:c.475-72_475-56del	XP_011523425.2:n.475-72_475-56del
XM_011525124.2:c.7-72_7-56del	XP_011523426.1:n.7-72_7-56del
XM_024450873.1:c.7-72_7-56del	XP_024306641.1:n.7-72_7-56del
XR_002958056.1:n.831-72_831-56del
NM_000023.4:c.313-72_313-56del MANE Select	NP_000014.1:n.313-72_313-56del
NM_001135697.3:c.313-72_313-56del	NP_001129169.1:n.313-72_313-56del
NR_135553.2:n.349-72_349-56del