Canonical Allele Identifier: CA882848412

Gene: FKRP

Linked Data

• dbSNP Id: rs1172633717
• MyVariant Identifiers: chr19:g.47258705_47258715del (hg19) ; chr19:g.46755448_46755458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755449_46755459del , CM000681.2:g.46755449_46755459del	GRCh38
NC_000019.9:g.47258706_47258716del , CM000681.1:g.47258706_47258716del	GRCh37
NC_000019.8:g.51950546_51950556del	NCBI36
NG_008898.2:g.14404_14414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.-2_9del
ENST00000318584.9:c.-2_9del
ENST00000391909.7:c.-2_9del
ENST00000593800.5:c.-2_9del
ENST00000593875.5:c.-2_9del
ENST00000593877.1:c.-2_9del
ENST00000593902.1:c.-2_9del
ENST00000594467.5:c.-345-86_-345-76del	ENSP00000471971.1:n.-345-86_-345-76del
ENST00000595570.5:c.-2_9del
ENST00000595868.5:c.-2_9del
ENST00000596460.5:c.-2_9del
ENST00000596974.5:n.311-86_311-76del
ENST00000597313.5:c.-2_9del
ENST00000597339.5:n.247-6384_247-6374del
ENST00000598271.5:c.-2_9del
ENST00000600005.5:c.-2_9del
ENST00000600227.5:c.-2_9del
ENST00000600629.5:c.-2_9del
ENST00000600646.5:n.247+6784_247+6794del
ENST00000600834.5:c.-2_9del
ENST00000601299.5:c.-2_9del
ENST00000602181.5:c.-2_9del
ENST00000602250.5:c.-2_9del
NM_001039885.2:c.-2_9del
NM_024301.4:c.-2_9del
XM_005259247.1:c.-2_9del
XM_005259248.1:c.-2_9del
XM_005259249.3:c.-2_9del
XM_005259250.3:c.-2_9del
XM_011527301.1:c.-2_9del
XM_011527302.1:c.-2_9del
XM_011527303.1:c.-2_9del
XM_011527304.1:c.-2_9del
XM_011527305.1:c.-2_9del
XM_011527306.1:c.-2_9del
XM_011527307.1:c.-2_9del
XM_005259247.2:c.-2_9del
XM_005259248.2:c.-2_9del
XM_005259249.4:c.-2_9del
XM_011527306.2:c.-2_9del
XM_017027297.2:c.-2_9del
XM_024451707.1:c.-2_9del
NM_001039885.3:c.-2_9del
NM_024301.5:c.-2_9del