Canonical Allele Identifier: CA2813846766
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783030_18783031insACACA , CM000681.2:g.18783030_18783031insACACA GRCh38
NC_000019.9:g.18893840_18893841insACACA , CM000681.1:g.18893840_18893841insACACA GRCh37
NC_000019.8:g.18754840_18754841insACACA NCBI36
NG_007070.1:g.13276_13277insTGTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000222271.7:c.2227+25_2227+26insTGTTG MANE Select ENSP00000222271.2:n.2227+25_2227+26insTGTTG
ENST00000222271.6:c.2227+25_2227+26insTGTTG ENSP00000222271.2:n.2227+25_2227+26insTGTTG
ENST00000425807.1:c.2068+25_2068+26insTGTTG ENSP00000403792.1:n.2068+25_2068+26insTGTTG
ENST00000542601.6:c.2128+25_2128+26insTGTTG ENSP00000439156.2:n.2128+25_2128+26insTGTTG
NM_000095.2:c.2227+25_2227+26insTGTTG NP_000086.2:n.2227+25_2227+26insTGTTG
NM_000095.3:c.2227+25_2227+26insTGTTG MANE Select NP_000086.2:n.2227+25_2227+26insTGTTG