Canonical Allele Identifier: CA9532195

Gene: FKRP

Linked Data

• dbSNP Id: rs1568418878
• ExAC: 19:47259446 CCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCG / C
• gnomAD v2: 19-47259446-CCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCG-C
• gnomAD v4: 19-46756189-CCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCG-C
• MyVariant Identifiers: chr19:g.47259447_47259518del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756196_46756267del , CM000681.2:g.46756196_46756267del	GRCh38
NC_000019.9:g.47259453_47259524del , CM000681.1:g.47259453_47259524del	GRCh37
NC_000019.8:g.51951293_51951364del	NCBI36
NG_008898.2:g.15151_15222del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318584.10:c.746_817del MANE Select	ENSP00000326570.4:p.Ala249_Leu272del
ENST00000318584.9:c.746_817del	ENSP00000326570.4:p.Ala249_Leu272del
ENST00000391909.7:c.746_817del	ENSP00000375776.2:p.Ala249_Leu272del
ENST00000597339.5:n.247-5637_247-5566del
ENST00000600646.5:n.247+7531_247+7602del
NM_001039885.2:c.746_817del	NP_001034974.1:p.Ala249_Leu272del
NM_024301.4:c.746_817del	NP_077277.1:p.Ala249_Leu272del
XM_005259247.1:c.746_817del	XP_005259304.1:p.Ala249_Leu272del
XM_005259248.1:c.746_817del	XP_005259305.1:p.Ala249_Leu272del
XM_005259249.3:c.746_817del	XP_005259306.1:p.Ala249_Leu272del
XM_005259250.3:c.746_817del	XP_005259307.1:p.Ala249_Leu272del
XM_011527301.1:c.746_817del	XP_011525603.1:p.Ala249_Leu272del
XM_011527302.1:c.746_817del	XP_011525604.1:p.Ala249_Leu272del
XM_011527303.1:c.746_817del	XP_011525605.1:p.Ala249_Leu272del
XM_011527304.1:c.746_817del	XP_011525606.1:p.Ala249_Leu272del
XM_011527305.1:c.746_817del	XP_011525607.1:p.Ala249_Leu272del
XM_011527306.1:c.746_817del	XP_011525608.1:p.Ala249_Leu272del
XM_011527307.1:c.746_817del	XP_011525609.1:p.Ala249_Leu272del
XM_005259247.2:c.746_817del	XP_005259304.1:p.Ala249_Leu272del
XM_005259248.2:c.746_817del	XP_005259305.1:p.Ala249_Leu272del
XM_005259249.4:c.746_817del	XP_005259306.1:p.Ala249_Leu272del
XM_011527306.2:c.746_817del	XP_011525608.1:p.Ala249_Leu272del
XM_017027297.2:c.746_817del	XP_016882786.1:p.Ala249_Leu272del
XM_024451707.1:c.746_817del	XP_024307475.1:p.Ala249_Leu272del
NM_001039885.3:c.746_817del	NP_001034974.1:p.Ala249_Leu272del
NM_024301.5:c.746_817del MANE Select	NP_077277.1:p.Ala249_Leu272del