Canonical Allele Identifier: CA1435768780

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291606_6291618delinsGCTCAAGTGCTCA , CM000666.2:g.6291606_6291618delinsGCTCAAGTGCTCA	GRCh38
NC_000004.11:g.6293333_6293345delinsGCTCAAGTGCTCA , CM000666.1:g.6293333_6293345delinsGCTCAAGTGCTCA	GRCh37
NC_000004.10:g.6344234_6344246delinsGCTCAAGTGCTCA	NCBI36
NG_011700.1:g.26757_26769delinsGCTCAAGTGCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+239_631+251delinsGCTCAAGTGCTCA	ENSP00000507852.1:n.631+239_631+251delins...
ENST00000683395.1:c.608+252_608+264delinsGCTCAAGTGCTCA
ENST00000684087.1:c.631+239_631+251delinsGCTCAAGTGCTCA	ENSP00000506978.1:n.631+239_631+251delins...
ENST00000684700.1:c.*165_*177delinsGCTCAAGTGCTCA	ENSP00000507806.1:n.*165_*177delinsGCTCAA...
ENST00000506362.2:c.382+239_382+251delinsGCTCAAGTGCTCA	ENSP00000424103.2:n.382+239_382+251delins...
ENST00000673642.1:c.430+239_430+251delinsGCTCAAGTGCTCA	ENSP00000501242.1:n.430+239_430+251delins...
ENST00000673991.1:c.631+239_631+251delinsGCTCAAGTGCTCA	ENSP00000501033.1:n.631+239_631+251delins...
ENST00000226760.5:c.631+239_631+251delinsGCTCAAGTGCTCA MANE Select	ENSP00000226760.1:n.631+239_631+251delins...
ENST00000503569.5:c.631+239_631+251delinsGCTCAAGTGCTCA	ENSP00000423337.1:n.631+239_631+251delins...
ENST00000506362.1:c.228+239_228+251delinsGCTCAAGTGCTCA
ENST00000507765.1:n.816+239_816+251delinsGCTCAAGTGCTCA
NM_001145853.1:c.631+239_631+251delinsGCTCAAGTGCTCA	NP_001139325.1:n.631+239_631+251delinsGCT...
NM_006005.3:c.631+239_631+251delinsGCTCAAGTGCTCA MANE Select	NP_005996.2:n.631+239_631+251delinsGCTCAA...
XM_017008586.1:c.640+239_640+251delinsGCTCAAGTGCTCA	XP_016864075.1:n.640+239_640+251delinsGCT...