Canonical Allele Identifier: CA549707989

Gene: WFS1

Linked Data

• dbSNP Id: rs1437382382
• gnomAD v2: 4-6293210-GCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA-G
• gnomAD v3: 4-6291483-GCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA-G
• gnomAD v4: 4-6291483-GCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA-G
• MyVariant Identifiers: chr4:g.6293211_6293260del (hg19) ; chr4:g.6291484_6291533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291486_6291535del , CM000666.2:g.6291486_6291535del	GRCh38
NC_000004.11:g.6293213_6293262del , CM000666.1:g.6293213_6293262del	GRCh37
NC_000004.10:g.6344114_6344163del	NCBI36
NG_011700.1:g.26637_26686del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+119_631+168del	ENSP00000507852.1:n.631+119_631+168del
ENST00000683395.1:c.608+132_608+181del
ENST00000684087.1:c.631+119_631+168del	ENSP00000506978.1:n.631+119_631+168del
ENST00000684700.1:c.*45_*94del	ENSP00000507806.1:n.*45_*94del
ENST00000506362.2:c.382+119_382+168del	ENSP00000424103.2:n.382+119_382+168del
ENST00000673642.1:c.430+119_430+168del	ENSP00000501242.1:n.430+119_430+168del
ENST00000673991.1:c.631+119_631+168del	ENSP00000501033.1:n.631+119_631+168del
ENST00000226760.5:c.631+119_631+168del MANE Select	ENSP00000226760.1:n.631+119_631+168del
ENST00000503569.5:c.631+119_631+168del	ENSP00000423337.1:n.631+119_631+168del
ENST00000506362.1:c.228+119_228+168del
ENST00000507765.1:n.816+119_816+168del
NM_001145853.1:c.631+119_631+168del	NP_001139325.1:n.631+119_631+168del
NM_006005.3:c.631+119_631+168del MANE Select	NP_005996.2:n.631+119_631+168del
XM_017008586.1:c.640+119_640+168del	XP_016864075.1:n.640+119_640+168del