Canonical Allele Identifier: CA622654499

Gene: SALL1

Linked Data

• dbSNP Id: rs1555475414
• gnomAD v2: 16-51175643-TGCCGCC-T
• gnomAD v3: 16-51141732-TGCCGCC-T
• gnomAD v4: 16-51141732-TGCCGCC-T
• MyVariant Identifiers: chr16:g.51175644_51175649del (hg19) ; chr16:g.51141733_51141738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141741_51141746del , CM000678.2:g.51141741_51141746del	GRCh38
NC_000016.9:g.51175652_51175657del , CM000678.1:g.51175652_51175657del	GRCh37
NC_000016.8:g.49733153_49733158del	NCBI36
NG_007990.1:g.14535_14540del , LRG_674:g.14535_14540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.484_489del	ENSP00000407914.2:p.Gly162_Gly163del
ENST00000570206.2:c.193_198del	ENSP00000456777.2:p.Gly65_Gly66del
ENST00000685868.1:c.484_489del	ENSP00000509873.1:p.Gly162_Gly163del
ENST00000690502.1:c.484_489del	ENSP00000510560.1:p.Gly162_Gly163del
ENST00000251020.9:c.484_489del MANE Select	ENSP00000251020.4:p.Gly162_Gly163del
ENST00000251020.8:c.484_489del	ENSP00000251020.4:p.Gly162_Gly163del
ENST00000440970.5:c.193_198del	ENSP00000407914.1:p.Gly65_Gly66del
ENST00000566102.1:c.77-4186_77-4181del	ENSP00000455582.1:n.77-4186_77-4181del
ENST00000570206.1:c.193_198del	ENSP00000456777.1:p.Gly65_Gly66del
NM_001127892.1:c.193_198del	NP_001121364.1:p.Gly65_Gly66del
NM_002968.2:c.484_489del , LRG_674t1:c.484_489del	NP_002959.2:p.Gly162_Gly163del
XM_006721241.2:c.484_489del	XP_006721304.1:p.Gly162_Gly163del
XM_011523254.1:c.484_489del	XP_011521556.1:p.Gly162_Gly163del
XM_011523255.1:c.484_489del	XP_011521557.1:p.Gly162_Gly163del
NM_002968.3:c.484_489del MANE Select	NP_002959.2:p.Gly162_Gly163del
NM_001127892.2:c.193_198del	NP_001121364.1:p.Gly65_Gly66del