Canonical Allele Identifier: CA2230372

Gene: SUMF1

Linked Data

• dbSNP Id: rs756042978
• ExAC: 3:4418068 ACCTTTCT / A
• gnomAD v2: 3-4418068-ACCTTTCT-A
• gnomAD v4: 3-4376384-ACCTTTCT-A
• MyVariant Identifiers: chr3:g.4418069_4418075del (hg19) ; chr3:g.4376385_4376391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4376385_4376391del , CM000665.2:g.4376385_4376391del	GRCh38
NC_000003.11:g.4418069_4418075del , CM000665.1:g.4418069_4418075del	GRCh37
NC_000003.10:g.4393069_4393075del	NCBI36
NG_016225.1:g.95892_95898del
NG_016225.2:g.95892_95898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.955-2_959del
ENST00000272902.9:c.955-2_959del
ENST00000383843.9:c.880-2_884del
ENST00000405420.2:c.955-14137_955-14131del	ENSP00000384977.2:n.955-14137_955-14131del
ENST00000448413.5:c.955-2_959del
ENST00000458465.6:c.559-2_563del
NM_001164674.1:c.880-2_884del
NM_001164675.1:c.955-14137_955-14131del	NP_001158147.1:n.955-14137_955-14131del
NM_182760.3:c.955-2_959del
XM_011533623.1:c.955-2_959del
XM_011533624.1:c.955-2_959del
XM_011533625.1:c.955-2_959del
XM_011533626.1:c.955-2_959del
XM_011533624.3:c.955-2_959del
XM_011533625.3:c.955-2_959del
XM_011533626.3:c.955-2_959del
XM_017006252.2:c.954+34474_954+34480del	XP_016861741.1:n.954+34474_954+34480del
XM_017006253.1:c.880-2_884del
XM_017006254.2:c.955-2_959del
XM_017006255.2:c.955-2_959del
NM_182760.4:c.955-2_959del
NM_001164674.2:c.880-2_884del
NM_001164675.2:c.955-14137_955-14131del	NP_001158147.1:n.955-14137_955-14131del