Canonical Allele Identifier: CA9532286
Gene: FKRP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 289093
ClinVar RCV Id: RCV000382228
dbSNP Id: rs772950604

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46756719_46756720insT , CM000681.2:g.46756719_46756720insT GRCh38
NC_000019.9:g.47259976_47259977insT , CM000681.1:g.47259976_47259977insT GRCh37
NC_000019.8:g.51951816_51951817insT NCBI36
NG_008898.2:g.15674_15675insT

Transcript Alleles

HGVS Amino-acid change
NM_001039885.2:c.1269_1270insT VV NP_001034974.1:p.Asn424Ter
NM_024301.4:c.1269_1270insT VV NP_077277.1:p.Asn424Ter
XM_005259247.1:c.1269_1270insT XP_005259304.1:p.Asn424Ter
XM_005259248.1:c.1269_1270insT XP_005259305.1:p.Asn424Ter
XM_005259249.3:c.1269_1270insT XP_005259306.1:p.Asn424Ter
XM_005259250.3:c.1269_1270insT XP_005259307.1:p.Asn424Ter
XM_011527301.1:c.1269_1270insT XP_011525603.1:p.Asn424Ter
XM_011527302.1:c.1269_1270insT XP_011525604.1:p.Asn424Ter
XM_011527303.1:c.1269_1270insT XP_011525605.1:p.Asn424Ter
XM_011527304.1:c.1269_1270insT XP_011525606.1:p.Asn424Ter
XM_011527305.1:c.1269_1270insT XP_011525607.1:p.Asn424Ter
XM_011527306.1:c.1269_1270insT XP_011525608.1:p.Asn424Ter
XM_011527307.1:c.1269_1270insT XP_011525609.1:p.Asn424Ter
XM_005259247.2:c.1269_1270insT XP_005259304.1:p.Asn424Ter
XM_005259248.2:c.1269_1270insT XP_005259305.1:p.Asn424Ter
XM_005259249.4:c.1269_1270insT XP_005259306.1:p.Asn424Ter
XM_011527306.2:c.1269_1270insT XP_011525608.1:p.Asn424Ter
XM_017027297.2:c.1269_1270insT XP_016882786.1:p.Asn424Ter
XM_024451707.1:c.1269_1270insT XP_024307475.1:p.Asn424Ter
ENST00000318584.9:c.1269_1270insT ENSP00000326570.4:p.Asn424Ter
ENST00000391909.7:c.1269_1270insT ENSP00000375776.2:p.Asn424Ter
ENST00000597339.5:n.247-5114_247-5113insT
ENST00000600646.5:n.247+8054_247+8055insT