Canonical Allele Identifier: CA229435782

Gene: FXYD6 FXYD6-FXYD2

Linked Data

• dbSNP Id: rs888992065
• gnomAD v3: 11-117874462-AAG-A
• gnomAD v4: 11-117874462-AAG-A
• MyVariant Identifiers: chr11:g.117745178_117745179del (hg19) ; chr11:g.117874463_117874464del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117874467_117874468del , CM000673.2:g.117874467_117874468del	GRCh38
NC_000011.9:g.117745182_117745183del , CM000673.1:g.117745182_117745183del	GRCh37
NC_000011.8:g.117250392_117250393del	NCBI36
NG_013071.1:g.7967_7968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526014.6:c.-6+2128_-6+2129del (FXYD6) MANE Select	ENSP00000433312.1:n.-6+2128_-6+2129del
ENST00000260282.8:c.-179+2128_-179+2129del (FXYD6)	ENSP00000260282.4:n.-179+2128_-179+2129del
ENST00000524841.5:c.-6+2835_-6+2836del (FXYD6)	ENSP00000431913.1:n.-6+2835_-6+2836del
ENST00000526014.5:c.-6+2128_-6+2129del (FXYD6)	ENSP00000433312.1:n.-6+2128_-6+2129del
ENST00000527429.5:n.52+2128_52+2129del (FXYD6)
ENST00000527717.5:c.-6+2835_-6+2836del (FXYD6)	ENSP00000431446.1:n.-6+2835_-6+2836del
ENST00000529335.6:c.-6+2128_-6+2129del (FXYD6)	ENSP00000436629.2:n.-6+2128_-6+2129del
ENST00000530956.6:c.-103+2128_-103+2129del (FXYD6)	ENSP00000463158.1:n.-103+2128_-103+2129del
ENST00000532984.1:c.-6+2128_-6+2129del (FXYD6-FXYD2)	ENSP00000463024.1:n.-6+2128_-6+2129del
ENST00000539526.5:c.-82+2128_-82+2129del (FXYD6)	ENSP00000442756.1:n.-82+2128_-82+2129del
ENST00000540359.6:n.138+2128_138+2129del (FXYD6)
ENST00000579486.5:n.142+2128_142+2129del (FXYD6)
ENST00000584230.1:c.-103+2128_-103+2129del (FXYD6)	ENSP00000464144.1:n.-103+2128_-103+2129del
ENST00000584394.5:c.-6+2128_-6+2129del (FXYD6)	ENSP00000463160.1:n.-6+2128_-6+2129del
ENST00000614497.5:c.-6+2128_-6+2129del (FXYD6-FXYD2)	ENSP00000482442.1:n.-6+2128_-6+2129del
NM_001164831.2:c.-6+2835_-6+2836del (FXYD6)	NP_001158303.1:n.-6+2835_-6+2836del
NM_001164832.2:c.-103+2128_-103+2129del (FXYD6)	NP_001158304.1:n.-103+2128_-103+2129del
NM_001164836.2:c.-179+2128_-179+2129del (FXYD6)	NP_001158308.1:n.-179+2128_-179+2129del
NM_001164837.2:c.-82+2128_-82+2129del (FXYD6)	NP_001158309.1:n.-82+2128_-82+2129del
NM_001204268.1:c.-6+2128_-6+2129del (FXYD6-FXYD2)	NP_001191197.1:n.-6+2128_-6+2129del
NM_001243598.2:c.-6+2128_-6+2129del (FXYD6-FXYD2)	NP_001230527.1:n.-6+2128_-6+2129del
NM_022003.3:c.-6+2128_-6+2129del (FXYD6)	NP_071286.1:n.-6+2128_-6+2129del
NM_022003.4:c.-6+2128_-6+2129del (FXYD6) MANE Select	NP_071286.1:n.-6+2128_-6+2129del
NM_001164831.3:c.-6+2835_-6+2836del (FXYD6)	NP_001158303.1:n.-6+2835_-6+2836del
NM_001164832.3:c.-103+2128_-103+2129del (FXYD6)	NP_001158304.1:n.-103+2128_-103+2129del
NM_001164836.3:c.-179+2128_-179+2129del (FXYD6)	NP_001158308.1:n.-179+2128_-179+2129del
NM_001204268.2:c.-6+2128_-6+2129del (FXYD6-FXYD2)	NP_001191197.1:n.-6+2128_-6+2129del
NM_001243598.3:c.-6+2128_-6+2129del (FXYD6-FXYD2)	NP_001230527.1:n.-6+2128_-6+2129del
NM_001164837.3:c.-82+2128_-82+2129del (FXYD6)	NP_001158309.1:n.-82+2128_-82+2129del
NM_001204268.3:c.-6+2128_-6+2129del (FXYD6-FXYD2)	NP_001191197.1:n.-6+2128_-6+2129del
NM_001243598.4:c.-6+2128_-6+2129del (FXYD6-FXYD2)	NP_001230527.1:n.-6+2128_-6+2129del