Canonical Allele Identifier: CA2638703640

Gene: SGCA

Linked Data

• gnomAD v4: 17-50167627-GACACCCAGACCTGCCCCGGTGGCTCCGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167636_50167664del , CM000679.2:g.50167636_50167664del	GRCh38
NC_000017.10:g.48244997_48245025del , CM000679.1:g.48244997_48245025del	GRCh37
NC_000017.9:g.45599996_45600024del	NCBI36
NG_008889.1:g.6632_6660del , LRG_203:g.6632_6660del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.212_240del	ENSP00000422030.2:p.Asp71AlafsTer24
ENST00000511303.6:n.38-311_38-283del
ENST00000512526.2:c.212_240del	ENSP00000426606.2:p.Asp71AlafsTer?
ENST00000682109.1:c.92_120del	ENSP00000508041.1:p.Asp31AlafsTer24
ENST00000683294.1:c.212_240del	ENSP00000508134.1:p.Asp71AlafsTer24
ENST00000262018.8:c.212_240del MANE Select	ENSP00000262018.3:p.Asp71AlafsTer24
ENST00000262018.7:c.212_240del	ENSP00000262018.3:p.Asp71AlafsTer24
ENST00000344627.10:c.212_240del	ENSP00000345522.6:p.Asp71AlafsTer24
ENST00000502555.5:c.157+149_157+177del	ENSP00000422817.1:n.157+149_157+177del
ENST00000511303.5:c.34-311_34-283del	ENSP00000426104.1:n.34-311_34-283del
ENST00000512526.1:c.56_84del
ENST00000513821.5:c.212_240del	ENSP00000426571.1:p.Asp71AlafsTer24
ENST00000513942.5:n.104-311_104-283del
ENST00000514934.1:c.*18+149_*18+177del	ENSP00000423168.1:n.*18+149_*18+177del
NM_000023.2:c.212_240del , LRG_203t1:c.212_240del	NP_000014.1:p.Asp71AlafsTer24
NM_001135697.1:c.212_240del	NP_001129169.1:p.Asp71AlafsTer24
XM_011525120.1:c.212_240del	XP_011523422.1:p.Asp71AlafsTer24
XM_011525121.1:c.212_240del	XP_011523423.1:p.Asp71AlafsTer24
XM_011525122.1:c.212_240del	XP_011523424.1:p.Asp71AlafsTer24
XM_011525123.1:c.212_240del	XP_011523425.1:p.Asp71AlafsTer24
XM_011525124.1:c.6+149_6+177del	XP_011523426.1:n.6+149_6+177del
XR_934517.1:n.278_306del
NM_000023.3:c.212_240del	NP_000014.1:p.Asp71AlafsTer24
NM_001135697.2:c.212_240del	NP_001129169.1:p.Asp71AlafsTer24
NR_135553.1:n.268_296del
XM_011525120.2:c.374_402del	XP_011523422.2:p.Asp125AlafsTer24
XM_011525121.2:c.374_402del	XP_011523423.2:p.Asp125AlafsTer24
XM_011525122.2:c.374_402del	XP_011523424.2:p.Asp125AlafsTer24
XM_011525123.2:c.374_402del	XP_011523425.2:p.Asp125AlafsTer24
XM_011525124.2:c.6+149_6+177del	XP_011523426.1:n.6+149_6+177del
XM_024450873.1:c.6+149_6+177del	XP_024306641.1:n.6+149_6+177del
XR_002958056.1:n.730_758del
NM_000023.4:c.212_240del MANE Select	NP_000014.1:p.Asp71AlafsTer24
NM_001135697.3:c.212_240del	NP_001129169.1:p.Asp71AlafsTer24
NR_135553.2:n.248_276del