Canonical Allele Identifier: CA2610620896

Gene: FGF8

Linked Data

• gnomAD v4: 10-101775539-CACTCGCTGTGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101775542_101775553del , CM000672.2:g.101775542_101775553del	GRCh38
NC_000010.10:g.103535299_103535310del , CM000672.1:g.103535299_103535310del	GRCh37
NC_000010.9:g.103525289_103525300del	NCBI36
NG_007151.1:g.5520_5531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.69+189_69+200del MANE Select	ENSP00000321797.2:n.69+189_69+200del
ENST00000618991.5:c.-124+189_-124+200del	ENSP00000484420.1:n.-124+189_-124+200del
ENST00000344255.8:c.69+189_69+200del	ENSP00000340039.3:n.69+189_69+200del
ENST00000320185.6:c.69+189_69+200del	ENSP00000321797.2:n.69+189_69+200del
ENST00000344255.7:c.69+189_69+200del	ENSP00000340039.3:n.69+189_69+200del
ENST00000346714.7:c.69+189_69+200del	ENSP00000344306.3:n.69+189_69+200del
ENST00000347978.2:c.69+189_69+200del	ENSP00000321945.2:n.69+189_69+200del
ENST00000469792.6:c.*144_*153+2del
ENST00000485728.1:n.32+318_32+329del
ENST00000618991.4:c.-124+189_-124+200del	ENSP00000484420.1:n.-124+189_-124+200del
NM_001206389.1:c.-124+189_-124+200del	NP_001193318.1:n.-124+189_-124+200del
NM_006119.4:c.69+189_69+200del	NP_006110.1:n.69+189_69+200del
NM_033163.3:c.69+189_69+200del	NP_149353.1:n.69+189_69+200del
NM_033164.3:c.69+189_69+200del	NP_149354.1:n.69+189_69+200del
NM_033165.3:c.69+189_69+200del	NP_149355.1:n.69+189_69+200del
XM_011539509.1:c.78+189_78+200del	XP_011537811.1:n.78+189_78+200del
NM_006119.5:c.69+189_69+200del	NP_006110.1:n.69+189_69+200del
NM_033163.4:c.69+189_69+200del	NP_149353.1:n.69+189_69+200del
NM_033164.4:c.69+189_69+200del	NP_149354.1:n.69+189_69+200del
NM_033165.4:c.69+189_69+200del	NP_149355.1:n.69+189_69+200del
NM_001206389.2:c.-124+189_-124+200del	NP_001193318.1:n.-124+189_-124+200del
NM_006119.6:c.69+189_69+200del	NP_006110.1:n.69+189_69+200del
NM_033163.5:c.69+189_69+200del MANE Select	NP_149353.1:n.69+189_69+200del
NM_033165.5:c.69+189_69+200del	NP_149355.1:n.69+189_69+200del