Canonical Allele Identifier: CA2638703913

Gene: SGCA

Linked Data

• gnomAD v4: 17-50167771-GGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGAATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGTATCTGAGTCCTCTCCTGCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167776_50167888del , CM000679.2:g.50167776_50167888del	GRCh38
NC_000017.10:g.48245137_48245249del , CM000679.1:g.48245137_48245249del	GRCh37
NC_000017.9:g.45600136_45600248del	NCBI36
NG_008889.1:g.6772_6884del , LRG_203:g.6772_6884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.312+40_313-59del	ENSP00000422030.2:n.312+40_313-59del
ENST00000511303.6:n.38-171_38-59del
ENST00000512526.2:c.303+49_304-59del	ENSP00000426606.2:n.303+49_304-59del
ENST00000682109.1:c.192+40_193-59del	ENSP00000508041.1:n.192+40_193-59del
ENST00000683226.1:n.22+40_23-59del
ENST00000683294.1:c.312+40_313-59del	ENSP00000508134.1:n.312+40_313-59del
ENST00000262018.8:c.312+40_313-59del MANE Select	ENSP00000262018.3:n.312+40_313-59del
ENST00000262018.7:c.312+40_313-59del	ENSP00000262018.3:n.312+40_313-59del
ENST00000344627.10:c.312+40_313-59del	ENSP00000345522.6:n.312+40_313-59del
ENST00000502555.5:c.158-171_158-59del	ENSP00000422817.1:n.158-171_158-59del
ENST00000511303.5:c.34-171_34-59del	ENSP00000426104.1:n.34-171_34-59del
ENST00000512526.1:c.147+49_148-59del
ENST00000513821.5:c.312+40_313-59del	ENSP00000426571.1:n.312+40_313-59del
ENST00000513942.5:n.104-171_104-59del
ENST00000514934.1:c.*19-171_*19-59del	ENSP00000423168.1:n.*19-171_*19-59del
NM_000023.2:c.312+40_313-59del , LRG_203t1:c.312+40_313-59del	NP_000014.1:n.312+40_313-59del
NM_001135697.1:c.312+40_313-59del	NP_001129169.1:n.312+40_313-59del
XM_011525120.1:c.312+40_313-59del	XP_011523422.1:n.312+40_313-59del
XM_011525121.1:c.312+40_313-59del	XP_011523423.1:n.312+40_313-59del
XM_011525122.1:c.312+40_313-59del	XP_011523424.1:n.312+40_313-59del
XM_011525123.1:c.312+40_313-59del	XP_011523425.1:n.312+40_313-59del
XM_011525124.1:c.7-171_7-59del	XP_011523426.1:n.7-171_7-59del
XR_934517.1:n.378+40_379-59del
NM_000023.3:c.312+40_313-59del	NP_000014.1:n.312+40_313-59del
NM_001135697.2:c.312+40_313-59del	NP_001129169.1:n.312+40_313-59del
NR_135553.1:n.368+40_369-59del
XM_011525120.2:c.474+40_475-59del	XP_011523422.2:n.474+40_475-59del
XM_011525121.2:c.474+40_475-59del	XP_011523423.2:n.474+40_475-59del
XM_011525122.2:c.474+40_475-59del	XP_011523424.2:n.474+40_475-59del
XM_011525123.2:c.474+40_475-59del	XP_011523425.2:n.474+40_475-59del
XM_011525124.2:c.7-171_7-59del	XP_011523426.1:n.7-171_7-59del
XM_024450873.1:c.7-171_7-59del	XP_024306641.1:n.7-171_7-59del
XR_002958056.1:n.830+40_831-59del
NM_000023.4:c.312+40_313-59del MANE Select	NP_000014.1:n.312+40_313-59del
NM_001135697.3:c.312+40_313-59del	NP_001129169.1:n.312+40_313-59del
NR_135553.2:n.348+40_349-59del