Canonical Allele Identifier: CA612868375

Gene: F10

Linked Data

• dbSNP Id: rs1595099766
• gnomAD v2: 13-113803682-G-GGTTTTTTTTTTAAT
• gnomAD v3: 13-113149368-G-GGTTTTTTTTTTAAT
• gnomAD v4: 13-113149368-G-GGTTTTTTTTTTAAT
• MyVariant Identifiers: chr13:g.113803682_113803683insGTTTTTTTTTTAAT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149369_113149370insTTTTTTTTTTAATG , CM000675.2:g.113149369_113149370insTTTTTTTTTTAATG	GRCh38
NC_000013.10:g.113803683_113803684insTTTTTTTTTTAATG , CM000675.1:g.113803683_113803684insTTTTTTTTTTAATG	GRCh37
NC_000013.9:g.112851684_112851685insTTTTTTTTTTAATG	NCBI36
NG_009258.1:g.31571_31572insTTTTTTTTTTAATG , LRG_548:g.31571_31572insTTTTTTTTTTAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1319_1320insTTTTTTTTTTAATG MANE Select	ENSP00000364709.3:p.Glu441PhefsTer31
ENST00000375551.7:c.*310_*311insTTTTTTTTTTAATG	ENSP00000364701.3:n.*310_*311insTTTTTTTTTTAATG
ENST00000375559.7:c.1319_1320insTTTTTTTTTTAATG	ENSP00000364709.3:p.Glu441PhefsTer31
ENST00000409306.5:c.*310_*311insTTTTTTTTTTAATG	ENSP00000387092.1:n.*310_*311insTTTTTTTTTTAATG
NM_000504.3:c.1319_1320insTTTTTTTTTTAATG , LRG_548t1:c.1319_1320insTTTTTTTTTTAATG	NP_000495.1:p.Glu441PhefsTer31
NM_001312674.1:c.1187_1188insTTTTTTTTTTAATG	NP_001299603.1:p.Glu397PhefsTer31
NM_001312675.1:c.*310_*311insTTTTTTTTTTAATG	NP_001299604.1:n.*310_*311insTTTTTTTTTTAATG
NM_000504.4:c.1319_1320insTTTTTTTTTTAATG MANE Select	NP_000495.1:p.Glu441PhefsTer31
NM_001312674.2:c.1187_1188insTTTTTTTTTTAATG	NP_001299603.1:p.Glu397PhefsTer31
NM_001312675.2:c.*310_*311insTTTTTTTTTTAATG	NP_001299604.1:n.*310_*311insTTTTTTTTTTAATG