Canonical Allele Identifier: CA721410998

Gene: SALL1

Linked Data

• dbSNP Id: rs1250863186
• gnomAD v3: 16-51136154-TAAAC-T
• gnomAD v4: 16-51136154-TAAAC-T
• MyVariant Identifiers: chr16:g.51170066_51170069del (hg19) ; chr16:g.51136155_51136158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136160_51136163del , CM000678.2:g.51136160_51136163del	GRCh38
NC_000016.9:g.51170071_51170074del , CM000678.1:g.51170071_51170074del	GRCh37
NC_000016.8:g.49727572_49727575del	NCBI36
NG_007990.1:g.20115_20118del , LRG_674:g.20115_20118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*954_*957del	ENSP00000407914.2:n.*954_*957del
ENST00000685868.1:c.*954_*957del	ENSP00000509873.1:n.*954_*957del
ENST00000251020.9:c.*954_*957del MANE Select	ENSP00000251020.4:n.*954_*957del
ENST00000251020.8:c.*954_*957del	ENSP00000251020.4:n.*954_*957del
ENST00000440970.5:c.*954_*957del	ENSP00000407914.1:n.*954_*957del
NM_001127892.1:c.*954_*957del	NP_001121364.1:n.*954_*957del
NM_002968.2:c.*954_*957del , LRG_674t1:c.*954_*957del	NP_002959.2:n.*954_*957del
XM_006721241.2:c.*954_*957del	XP_006721304.1:n.*954_*957del
XM_011523254.1:c.*954_*957del	XP_011521556.1:n.*954_*957del
XM_011523255.1:c.*954_*957del	XP_011521557.1:n.*954_*957del
NM_002968.3:c.*954_*957del MANE Select	NP_002959.2:n.*954_*957del
NM_001127892.2:c.*954_*957del	NP_001121364.1:n.*954_*957del