Canonical Allele Identifier: CA2461235282

Gene: FGF13

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139035241_139035249delinsTACTGTATA , CM000685.2:g.139035241_139035249delinsTACTGTATA	GRCh38
NC_000023.10:g.138117403_138117411delinsTACTGTATA , CM000685.1:g.138117403_138117411delinsTACTGTATA	GRCh37
NC_000023.9:g.137945069_137945077delinsTACTGTATA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436198.6:c.49+168810_49+168818delinsTATACAGTA	ENSP00000396198.2:n.49+168810_49+168818delinsTATACAGTA
ENST00000441825.8:c.-148-44632_-148-44624delinsTATACAGTA	ENSP00000409276.2:n.-148-44632_-148-44624delinsTATACAGTA
ENST00000421460.1:c.-113+168167_-113+168175delinsTATACAGTA	ENSP00000388688.1:n.-113+168167_-113+168175delinsTATACAGTA
ENST00000436198.5:c.49+168810_49+168818delinsTATACAGTA	ENSP00000396198.2:n.49+168810_49+168818delinsTATACAGTA
ENST00000448673.1:c.49+168810_49+168818delinsTATACAGTA	ENSP00000411999.1:n.49+168810_49+168818delinsTATACAGTA
ENST00000626909.2:c.49+168810_49+168818delinsTATACAGTA	ENSP00000487411.1:n.49+168810_49+168818delinsTATACAGTA
NM_001139498.1:c.49+168810_49+168818delinsTATACAGTA	NP_001132970.1:n.49+168810_49+168818delinsTATACAGTA
NM_001139500.1:c.49+168810_49+168818delinsTATACAGTA	NP_001132972.1:n.49+168810_49+168818delinsTATACAGTA
NM_001139501.1:c.-148-44632_-148-44624delinsTATACAGTA	NP_001132973.1:n.-148-44632_-148-44624delinsTATACAGTA
XM_005262399.1:c.49+168810_49+168818delinsTATACAGTA	XP_005262456.1:n.49+168810_49+168818delinsTATACAGTA
XM_011531315.1:c.82+168167_82+168175delinsTATACAGTA	XP_011529617.1:n.82+168167_82+168175delinsTATACAGTA
XM_024452352.1:c.82+168167_82+168175delinsTATACAGTA	XP_024308120.1:n.82+168167_82+168175delinsTATACAGTA
NM_001139498.2:c.49+168810_49+168818delinsTATACAGTA	NP_001132970.1:n.49+168810_49+168818delinsTATACAGTA
NM_001139500.2:c.49+168810_49+168818delinsTATACAGTA	NP_001132972.1:n.49+168810_49+168818delinsTATACAGTA
NM_001139501.2:c.-148-44632_-148-44624delinsTATACAGTA	NP_001132973.1:n.-148-44632_-148-44624delinsTATACAGTA