Canonical Allele Identifier: CA549708030

Gene: WFS1

Linked Data

• dbSNP Id: rs1375344098
• gnomAD v2: 4-6302358-GTTCCCACGTACCATCT-G
• gnomAD v3: 4-6300631-GTTCCCACGTACCATCT-G
• gnomAD v4: 4-6300631-GTTCCCACGTACCATCT-G
• MyVariant Identifiers: chr4:g.6302359_6302374del (hg19) ; chr4:g.6300632_6300647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300637_6300652del , CM000666.2:g.6300637_6300652del	GRCh38
NC_000004.11:g.6302364_6302379del , CM000666.1:g.6302364_6302379del	GRCh37
NC_000004.10:g.6353265_6353280del	NCBI36
NG_011700.1:g.35788_35803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.898-20_898-5del	ENSP00000507852.1:n.898-20_898-5del
ENST00000683395.1:c.839-20_839-5del
ENST00000684087.1:c.862-20_862-5del	ENSP00000506978.1:n.862-20_862-5del
ENST00000506362.2:c.613-20_613-5del	ENSP00000424103.2:n.613-20_613-5del
ENST00000673642.1:c.661-160_661-145del	ENSP00000501242.1:n.661-160_661-145del
ENST00000673991.1:c.898-20_898-5del	ENSP00000501033.1:n.898-20_898-5del
ENST00000226760.5:c.862-20_862-5del MANE Select	ENSP00000226760.1:n.862-20_862-5del
ENST00000503569.5:c.862-20_862-5del	ENSP00000423337.1:n.862-20_862-5del
ENST00000506362.1:c.495-20_495-5del
ENST00000507765.1:n.1047-20_1047-5del
ENST00000513395.1:n.420-20_420-5del
NM_001145853.1:c.862-20_862-5del	NP_001139325.1:n.862-20_862-5del
NM_006005.3:c.862-20_862-5del MANE Select	NP_005996.2:n.862-20_862-5del
XM_017008586.1:c.871-20_871-5del	XP_016864075.1:n.871-20_871-5del