Canonical Allele Identifier: CA212180488

Gene: FGF8

Linked Data

• dbSNP Id: rs929720803
• gnomAD v3: 10-101771287-TCAAA-T
• gnomAD v4: 10-101771287-TCAAA-T
• MyVariant Identifiers: chr10:g.103531045_103531048del (hg19) ; chr10:g.101771288_101771291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771290_101771293del , CM000672.2:g.101771290_101771293del	GRCh38
NC_000010.10:g.103531047_103531050del , CM000672.1:g.103531047_103531050del	GRCh37
NC_000010.9:g.103521037_103521040del	NCBI36
NG_007151.1:g.9780_9783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.444+172_444+175del MANE Select	ENSP00000321797.2:n.444+172_444+175del
ENST00000618991.5:c.132+172_132+175del	ENSP00000484420.1:n.132+172_132+175del
ENST00000344255.8:c.411+172_411+175del	ENSP00000340039.3:n.411+172_411+175del
ENST00000320185.6:c.444+172_444+175del	ENSP00000321797.2:n.444+172_444+175del
ENST00000344255.7:c.411+172_411+175del	ENSP00000340039.3:n.411+172_411+175del
ENST00000346714.7:c.324+172_324+175del	ENSP00000344306.3:n.324+172_324+175del
ENST00000347978.2:c.357+172_357+175del	ENSP00000321945.2:n.357+172_357+175del
ENST00000469792.6:c.*408+172_*408+175del	ENSP00000473299.1:n.*408+172_*408+175del
ENST00000485728.1:n.320+172_320+175del
ENST00000618991.4:c.132+172_132+175del	ENSP00000484420.1:n.132+172_132+175del
NM_001206389.1:c.132+172_132+175del	NP_001193318.1:n.132+172_132+175del
NM_006119.4:c.357+172_357+175del	NP_006110.1:n.357+172_357+175del
NM_033163.3:c.444+172_444+175del	NP_149353.1:n.444+172_444+175del
NM_033164.3:c.411+172_411+175del	NP_149354.1:n.411+172_411+175del
NM_033165.3:c.324+172_324+175del	NP_149355.1:n.324+172_324+175del
XM_011539509.1:c.366+172_366+175del	XP_011537811.1:n.366+172_366+175del
XR_946251.1:n.278-207_278-204del
XR_946252.1:n.209-207_209-204del
XR_946253.1:n.207-207_207-204del
XR_946252.2:n.299-207_299-204del
XR_946253.2:n.297-207_297-204del
NM_006119.5:c.357+172_357+175del	NP_006110.1:n.357+172_357+175del
NM_033163.4:c.444+172_444+175del	NP_149353.1:n.444+172_444+175del
NM_033164.4:c.411+172_411+175del	NP_149354.1:n.411+172_411+175del
NM_033165.4:c.324+172_324+175del	NP_149355.1:n.324+172_324+175del
NM_001206389.2:c.132+172_132+175del	NP_001193318.1:n.132+172_132+175del
NM_006119.6:c.357+172_357+175del	NP_006110.1:n.357+172_357+175del
NM_033163.5:c.444+172_444+175del MANE Select	NP_149353.1:n.444+172_444+175del
NM_033165.5:c.324+172_324+175del	NP_149355.1:n.324+172_324+175del