Canonical Allele Identifier: CA549423280

Gene: WFS1

Linked Data

• dbSNP Id: rs1560410816
• gnomAD v2: 4-6293754-ATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCG-A
• gnomAD v3: 4-6292027-ATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCG-A
• gnomAD v4: 4-6292027-ATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCG-A
• MyVariant Identifiers: chr4:g.6293755_6293829del (hg19) ; chr4:g.6292028_6292102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6292043_6292117del , CM000666.2:g.6292043_6292117del	GRCh38
NC_000004.11:g.6293770_6293844del , CM000666.1:g.6293770_6293844del	GRCh37
NC_000004.10:g.6344671_6344745del	NCBI36
NG_011700.1:g.27194_27268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.712+46_712+120del	ENSP00000507852.1:n.712+46_712+120del
ENST00000683395.1:c.689+46_689+120del
ENST00000684087.1:c.712+46_712+120del	ENSP00000506978.1:n.712+46_712+120del
ENST00000506362.2:c.463+46_463+120del	ENSP00000424103.2:n.463+46_463+120del
ENST00000673642.1:c.511+46_511+120del	ENSP00000501242.1:n.511+46_511+120del
ENST00000673991.1:c.712+46_712+120del	ENSP00000501033.1:n.712+46_712+120del
ENST00000226760.5:c.712+46_712+120del MANE Select	ENSP00000226760.1:n.712+46_712+120del
ENST00000503569.5:c.712+46_712+120del	ENSP00000423337.1:n.712+46_712+120del
ENST00000506362.1:c.309+46_309+120del
ENST00000507765.1:n.897+46_897+120del
NM_001145853.1:c.712+46_712+120del	NP_001139325.1:n.712+46_712+120del
NM_006005.3:c.712+46_712+120del MANE Select	NP_005996.2:n.712+46_712+120del
XM_017008586.1:c.721+46_721+120del	XP_016864075.1:n.721+46_721+120del