Canonical Allele Identifier: CA10575814

Gene: FRRS1L

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.109141468_109141470del , CM000671.2:g.109141468_109141470del	GRCh38
NC_000009.11:g.111903748_111903750del , CM000671.1:g.111903748_111903750del	GRCh37
NC_000009.10:g.110943569_110943571del	NCBI36
NG_051235.1:g.30824_30826del

Transcript Alleles

HGVS	Amino-acid Change
NM_014334.4:c.584_586del MANE Select	NP_055149.3:p.Gly195del
ENST00000561981.5:c.584_586del MANE Select	ENSP00000477141.2:p.Gly195del
NM_014334.2:c.737_739del	NP_055149.2:p.Gly246del
NM_014334.3:c.737_739del	NP_055149.2:p.Gly246del
ENST00000561981.2:c.737_739del	ENSP00000477141.1:p.Gly246del
ENST00000642157.1:n.2819_2821del
ENST00000644736.1:c.581_583del
ENST00000644747.1:c.364_366del	ENSP00000493964.1:n.364_366del
ENST00000645180.1:n.1335_1337del
XM_011518453.1:c.389_391del	XP_011516755.1:p.Gly130del
XM_011518454.1:c.389_391del	XP_011516756.1:p.Gly130del
XM_011518454.3:c.389_391del	XP_011516756.1:p.Gly130del