Canonical Allele Identifier: CA748636141

Gene: SOD1

Linked Data

• dbSNP Id: rs1326591642
• MyVariant Identifiers: chr21:g.33039900_33039903del (hg19) ; chr21:g.31667587_31667590del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.31667588_31667591del , CM000683.2:g.31667588_31667591del	GRCh38
NC_000021.8:g.33039901_33039904del , CM000683.1:g.33039901_33039904del	GRCh37
NC_000021.7:g.31961772_31961775del	NCBI36
NG_008689.1:g.12967_12970del , LRG_652:g.12967_12970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270142.11:c.357+213_357+216del MANE Select	ENSP00000270142.7:n.357+213_357+216del
ENST00000270142.10:c.357+213_357+216del	ENSP00000270142.6:n.357+213_357+216del
ENST00000389995.4:c.300+213_300+216del	ENSP00000374645.4:n.300+213_300+216del
ENST00000470944.1:n.1285+213_1285+216del
NM_000454.4:c.357+213_357+216del , LRG_652t1:c.357+213_357+216del	NP_000445.1:n.357+213_357+216del
NM_000454.5:c.357+213_357+216del MANE Select	NP_000445.1:n.357+213_357+216del