Canonical Allele Identifier: CA16616280

Gene: FKRP

Linked Data

• ClinVar Variation Id: 408658
• ClinVar RCV Id: RCV000464629
• MyVariant Identifiers: chr19:g.47255735_47259271del (hg19) ; chr19:g.46752478_46756014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46752478_46756014del , CM000681.2:g.46752478_46756014del	GRCh38
NC_000019.9:g.47255735_47259271del , CM000681.1:g.47255735_47259271del	GRCh37
NC_000019.8:g.51947575_51951111del	NCBI36
NG_008898.2:g.11433_14969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.-39-2934_564del
ENST00000318584.9:c.-39-2934_564del
ENST00000391909.7:c.-39-2934_564del
ENST00000597339.5:n.246+3813_247-5819del
ENST00000600646.5:n.247+3813_247+7349del
NM_001039885.2:c.-39-2934_564del
NM_024301.4:c.-39-2934_564del
XM_005259247.1:c.-39-2934_564del
XM_005259248.1:c.-39-2934_564del
XM_005259249.3:c.-39-2934_564del
XM_005259250.3:c.-39-2934_564del
XM_011527301.1:c.-39-2934_564del
XM_011527302.1:c.-39-2934_564del
XM_011527303.1:c.-39-2934_564del
XM_011527304.1:c.-39-2934_564del
XM_011527305.1:c.-39-2934_564del
XM_011527306.1:c.-39-2934_564del
XM_011527307.1:c.-39-2934_564del
XM_005259247.2:c.-39-2934_564del
XM_005259248.2:c.-39-2934_564del
XM_005259249.4:c.-39-2934_564del
XM_011527306.2:c.-39-2934_564del
XM_017027297.2:c.-39-2934_564del
XM_024451707.1:c.-39-2934_564del
NM_001039885.3:c.-39-2934_564del
NM_024301.5:c.-39-2934_564del