Canonical Allele Identifier: CA591365028

Gene: CAMSAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135821933_135821954del , CM000671.2:g.135821933_135821954del	GRCh38
NC_000009.11:g.138713779_138713800del , CM000671.1:g.138713779_138713800del	GRCh37
NC_000009.10:g.137853600_137853621del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015447.4:c.2717_2738del MANE Select	NP_056262.3:p.Gln906LeufsTer7
ENST00000389532.9:c.2717_2738del MANE Select	ENSP00000374183.4:p.Gln906LeufsTer7
NM_015447.3:c.2717_2738del	NP_056262.3:p.Gln906LeufsTer7
ENST00000312405.10:c.1883_1904del	ENSP00000312463.6:p.Gln628LeufsTer7
ENST00000389532.8:c.2717_2738del	ENSP00000374183.4:p.Gln906LeufsTer7
ENST00000409386.3:c.2750_2771del	ENSP00000386420.3:p.Gln917LeufsTer7
ENST00000483991.5:n.1779_1800del
XM_005263396.2:c.2750_2771del	XP_005263453.1:p.Gln917LeufsTer7
XM_005263396.3:c.2750_2771del	XP_005263453.1:p.Gln917LeufsTer7
XM_005263397.1:c.1883_1904del	XP_005263454.1:p.Gln628LeufsTer7
XM_011518272.1:c.2318_2339del	XP_011516574.1:p.Gln773LeufsTer7
XM_011518273.1:c.2153_2174del	XP_011516575.1:p.Gln718LeufsTer7
XM_011518273.2:c.2153_2174del	XP_011516575.1:p.Gln718LeufsTer7
XM_011518274.1:c.2120_2141del	XP_011516576.1:p.Gln707LeufsTer7
XM_017014301.1:c.2318_2339del	XP_016869790.1:p.Gln773LeufsTer7
XM_017014302.1:c.2318_2339del	XP_016869791.1:p.Gln773LeufsTer7