Canonical Allele Identifier: CA281297238

Gene: SALL1

Linked Data

• dbSNP Id: rs758179212
• gnomAD v2: 16-51169957-TGTTA-T
• gnomAD v3: 16-51136046-TGTTA-T
• gnomAD v4: 16-51136046-TGTTA-T
• MyVariant Identifiers: chr16:g.51169958_51169961del (hg19) ; chr16:g.51136047_51136050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136049_51136052del , CM000678.2:g.51136049_51136052del	GRCh38
NC_000016.9:g.51169960_51169963del , CM000678.1:g.51169960_51169963del	GRCh37
NC_000016.8:g.49727461_49727464del	NCBI36
NG_007990.1:g.20223_20226del , LRG_674:g.20223_20226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*1062_*1065del	ENSP00000407914.2:n.*1062_*1065del
ENST00000685868.1:c.*1062_*1065del	ENSP00000509873.1:n.*1062_*1065del
ENST00000251020.9:c.*1062_*1065del MANE Select	ENSP00000251020.4:n.*1062_*1065del
ENST00000251020.8:c.*1062_*1065del	ENSP00000251020.4:n.*1062_*1065del
ENST00000440970.5:c.*1062_*1065del	ENSP00000407914.1:n.*1062_*1065del
NM_001127892.1:c.*1062_*1065del	NP_001121364.1:n.*1062_*1065del
NM_002968.2:c.*1062_*1065del , LRG_674t1:c.*1062_*1065del	NP_002959.2:n.*1062_*1065del
XM_006721241.2:c.*1062_*1065del	XP_006721304.1:n.*1062_*1065del
XM_011523254.1:c.*1062_*1065del	XP_011521556.1:n.*1062_*1065del
XM_011523255.1:c.*1062_*1065del	XP_011521557.1:n.*1062_*1065del
NM_002968.3:c.*1062_*1065del MANE Select	NP_002959.2:n.*1062_*1065del
NM_001127892.2:c.*1062_*1065del	NP_001121364.1:n.*1062_*1065del