Canonical Allele Identifier: CA2820487883

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403815_38403816insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC , CM000685.2:g.38403815_38403816insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	GRCh38
NC_000023.10:g.38263068_38263069insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC , CM000685.1:g.38263068_38263069insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	GRCh37
NC_000023.9:g.38148012_38148013insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	NCBI36
NG_008471.1:g.56333_56334insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC MANE Select	ENSP00000039007.4:n.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTT...
ENST00000643344.1:c.*413+75_*413+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	ENSP00000496606.1:n.*413+75_*413+76insCTGCTTTTATGGAGCTGAAATTC...
ENST00000039007.4:c.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	ENSP00000039007.4:n.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTT...
ENST00000465127.1:c.172-262306_172-262305insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	ENSP00000417050.1:n.172-262306_172-262305insCTGCTTTTATGGAGCTG...
NM_000531.5:c.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	NP_000522.3:n.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTAT...
XM_017029556.1:c.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC	XP_016885045.1:n.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGG...
NM_000531.6:c.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTATGAGAAAGGGGAAATAC MANE Select	NP_000522.3:n.663+75_663+76insCTGCTTTTATGGAGCTGAAATTCTTTGGTAT...