Canonical Allele Identifier: CA118160561
Gene: FGF10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1191155
ClinVar RCV Id: RCV001552123
dbSNP Id: rs17228248
gnomAD v2: 5-44305385-TTC-T
gnomAD v3: 5-44305283-TTC-T
gnomAD v4: 5-44305283-TTC-T
MyVariant Identifiers: chr5:g.44305386_44305387del (hg19) chr5:g.44305284_44305285del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.44305285_44305286del , CM000667.2:g.44305285_44305286del GRCh38
NC_000005.9:g.44305387_44305388del , CM000667.1:g.44305387_44305388del GRCh37
NC_000005.8:g.44341144_44341145del NCBI36
NG_011446.1:g.88398_88399del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264664.5:c.430-93_430-92del MANE Select ENSP00000264664.4:n.430-93_430-92del
ENST00000264664.4:c.430-93_430-92del ENSP00000264664.4:n.430-93_430-92del
NM_004465.1:c.430-93_430-92del NP_004456.1:n.430-93_430-92del
XM_005248264.2:c.430-93_430-92del XP_005248321.1:n.430-93_430-92del
XM_005248264.4:c.430-93_430-92del XP_005248321.1:n.430-93_430-92del
NM_004465.2:c.430-93_430-92del MANE Select NP_004456.1:n.430-93_430-92del
Search 100 bp 5'
Search 100 bp 3'