Canonical Allele Identifier: CA2838351120

Gene: FRMD5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44123714_44123715del , CM000677.2:g.44123714_44123715del	GRCh38
NC_000015.9:g.44415912_44415913del , CM000677.1:g.44415912_44415913del	GRCh37
NC_000015.8:g.42203204_42203205del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417257.6:c.102+71240_102+71241del MANE Select	ENSP00000403067.1:n.102+71240_102+71241del
ENST00000402883.5:c.102+71240_102+71241del	ENSP00000384142.1:n.102+71240_102+71241del
ENST00000417257.5:c.102+71240_102+71241del	ENSP00000403067.1:n.102+71240_102+71241del
ENST00000421674.5:c.102+71240_102+71241del	ENSP00000401635.1:n.102+71240_102+71241del
ENST00000451277.5:c.102+71240_102+71241del	ENSP00000392786.1:n.102+71240_102+71241del
ENST00000458630.5:c.88+71240_88+71241del
ENST00000484674.5:c.-237-22183_-237-22182del	ENSP00000452968.1:n.-237-22183_-237-22182del
NM_001286490.1:c.-237-22183_-237-22182del	NP_001273419.1:n.-237-22183_-237-22182del
NM_001286491.1:c.-920+71240_-920+71241del	NP_001273420.1:n.-920+71240_-920+71241del
NM_032892.4:c.102+71240_102+71241del	NP_116281.2:n.102+71240_102+71241del
NR_104455.1:n.342+71240_342+71241del
XM_005254730.2:c.102+71240_102+71241del	XP_005254787.1:n.102+71240_102+71241del
XM_011522122.1:c.102+71240_102+71241del	XP_011520424.1:n.102+71240_102+71241del
XM_011522123.1:c.102+71240_102+71241del	XP_011520425.1:n.102+71240_102+71241del
XR_931927.1:n.625+71240_625+71241del
XR_931928.1:n.625+71240_625+71241del
NM_001322949.1:c.102+71240_102+71241del	NP_001309878.1:n.102+71240_102+71241del
NM_001322950.1:c.102+71240_102+71241del	NP_001309879.1:n.102+71240_102+71241del
NM_001322951.1:c.102+71240_102+71241del	NP_001309880.1:n.102+71240_102+71241del
XM_005254730.3:c.102+71240_102+71241del	XP_005254787.1:n.102+71240_102+71241del
XR_931927.3:n.303+71240_303+71241del
NM_032892.5:c.102+71240_102+71241del MANE Select	NP_116281.2:n.102+71240_102+71241del
NM_001286490.2:c.-237-22183_-237-22182del	NP_001273419.1:n.-237-22183_-237-22182del
NM_001286491.2:c.-920+71240_-920+71241del	NP_001273420.1:n.-920+71240_-920+71241del
NM_001322949.2:c.102+71240_102+71241del	NP_001309878.1:n.102+71240_102+71241del
NM_001322950.2:c.102+71240_102+71241del	NP_001309879.1:n.102+71240_102+71241del
NM_001322951.2:c.102+71240_102+71241del	NP_001309880.1:n.102+71240_102+71241del
NR_104455.2:n.319+71240_319+71241del