Canonical Allele Identifier: CA5184119

Gene: MUSK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.110728729dup , CM000671.2:g.110728729dup	GRCh38
NC_000009.11:g.113491009dup , CM000671.1:g.113491009dup	GRCh37
NC_000009.10:g.112530830dup	NCBI36
NG_016016.1:g.64959dup
NG_016016.2:g.64939dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005592.4:c.629-5522dup MANE Select	NP_005583.1:n.629-5522dup
ENST00000374448.9:c.629-5522dup MANE Select	ENSP00000363571.4:n.629-5522dup
NM_001166280.1:c.658+12dup	NP_001159752.1:n.658+12dup
NM_001166280.2:c.658+12dup	NP_001159752.1:n.658+12dup
NM_001166281.1:c.629-5522dup	NP_001159753.1:n.629-5522dup
NM_001166281.2:c.629-5522dup	NP_001159753.1:n.629-5522dup
NM_001369398.1:c.-609+434dup	NP_001356327.1:n.-609+434dup
NM_005592.3:c.629-5522dup	NP_005583.1:n.629-5522dup
ENST00000189978.10:c.658+12dup	ENSP00000189978.6:n.658+12dup
ENST00000374440.7:c.658+12dup	ENSP00000363563.4:n.658+12dup
ENST00000374448.8:c.629-5522dup	ENSP00000363571.4:n.629-5522dup
ENST00000416899.7:c.629-5522dup	ENSP00000393608.3:n.629-5522dup
ENST00000634612.1:n.50+12dup
XM_005251994.2:c.658+12dup	XP_005252051.1:n.658+12dup
XM_005251994.3:c.658+12dup	XP_005252051.1:n.658+12dup
XM_005251995.2:c.658+12dup	XP_005252052.1:n.658+12dup
XM_005251995.3:c.658+12dup	XP_005252052.1:n.658+12dup
XM_005251996.2:c.629-5522dup	XP_005252053.1:n.629-5522dup
XM_005251996.3:c.629-5522dup	XP_005252053.1:n.629-5522dup
XM_011518707.1:c.688+12dup	XP_011517009.1:n.688+12dup
XM_017014734.1:c.658+12dup	XP_016870223.1:n.658+12dup