Canonical Allele Identifier: CA406496792

Gene: FKRP

Linked Data

• dbSNP Id: rs1213162606
• MyVariant Identifiers: chr19:g.47259879_47259880insCT (hg19) ; chr19:g.46756622_46756623insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756623_46756624dup , CM000681.2:g.46756623_46756624dup	GRCh38
NC_000019.9:g.47259880_47259881dup , CM000681.1:g.47259880_47259881dup	GRCh37
NC_000019.8:g.51951720_51951721dup	NCBI36
NG_008898.2:g.15578_15579dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318584.10:c.1173_1174dup MANE Select	ENSP00000326570.4:p.Phe392SerfsTer?
ENST00000318584.9:c.1173_1174dup	ENSP00000326570.4:p.Phe392SerfsTer?
ENST00000391909.7:c.1173_1174dup	ENSP00000375776.2:p.Phe392SerfsTer?
ENST00000597339.5:n.247-5210_247-5209dup
ENST00000600646.5:n.247+7958_247+7959dup
NM_001039885.2:c.1173_1174dup	NP_001034974.1:p.Phe392SerfsTer?
NM_024301.4:c.1173_1174dup	NP_077277.1:p.Phe392SerfsTer?
XM_005259247.1:c.1173_1174dup	XP_005259304.1:p.Phe392SerfsTer?
XM_005259248.1:c.1173_1174dup	XP_005259305.1:p.Phe392SerfsTer?
XM_005259249.3:c.1173_1174dup	XP_005259306.1:p.Phe392SerfsTer?
XM_005259250.3:c.1173_1174dup	XP_005259307.1:p.Phe392SerfsTer?
XM_011527301.1:c.1173_1174dup	XP_011525603.1:p.Phe392SerfsTer?
XM_011527302.1:c.1173_1174dup	XP_011525604.1:p.Phe392SerfsTer?
XM_011527303.1:c.1173_1174dup	XP_011525605.1:p.Phe392SerfsTer?
XM_011527304.1:c.1173_1174dup	XP_011525606.1:p.Phe392SerfsTer?
XM_011527305.1:c.1173_1174dup	XP_011525607.1:p.Phe392SerfsTer?
XM_011527306.1:c.1173_1174dup	XP_011525608.1:p.Phe392SerfsTer?
XM_011527307.1:c.1173_1174dup	XP_011525609.1:p.Phe392SerfsTer?
XM_005259247.2:c.1173_1174dup	XP_005259304.1:p.Phe392SerfsTer?
XM_005259248.2:c.1173_1174dup	XP_005259305.1:p.Phe392SerfsTer?
XM_005259249.4:c.1173_1174dup	XP_005259306.1:p.Phe392SerfsTer?
XM_011527306.2:c.1173_1174dup	XP_011525608.1:p.Phe392SerfsTer?
XM_017027297.2:c.1173_1174dup	XP_016882786.1:p.Phe392SerfsTer?
XM_024451707.1:c.1173_1174dup	XP_024307475.1:p.Phe392SerfsTer?
NM_001039885.3:c.1173_1174dup	NP_001034974.1:p.Phe392SerfsTer?
NM_024301.5:c.1173_1174dup MANE Select	NP_077277.1:p.Phe392SerfsTer?