Canonical Allele Identifier: CA2820487882

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403816_38403817insACCAAACACACCCAACACA , CM000685.2:g.38403816_38403817insACCAAACACACCCAACACA	GRCh38
NC_000023.10:g.38263069_38263070insACCAAACACACCCAACACA , CM000685.1:g.38263069_38263070insACCAAACACACCCAACACA	GRCh37
NC_000023.9:g.38148013_38148014insACCAAACACACCCAACACA	NCBI36
NG_008471.1:g.56334_56335insACCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.663+76_663+77insACCAAACACACCCAACACA MANE Select	ENSP00000039007.4:n.663+76_663+77insACCAAACACACCCAACACA
ENST00000643344.1:c.*413+76_*413+77insACCAAACACACCCAACACA	ENSP00000496606.1:n.*413+76_*413+77insACCAAACACACCCAACACA
ENST00000039007.4:c.663+76_663+77insACCAAACACACCCAACACA	ENSP00000039007.4:n.663+76_663+77insACCAAACACACCCAACACA
ENST00000465127.1:c.172-262305_172-262304insACCAAACACACCCAACACA	ENSP00000417050.1:n.172-262305_172-262304insACCAAACACACCCAACA...
NM_000531.5:c.663+76_663+77insACCAAACACACCCAACACA	NP_000522.3:n.663+76_663+77insACCAAACACACCCAACACA
XM_017029556.1:c.663+76_663+77insACCAAACACACCCAACACA	XP_016885045.1:n.663+76_663+77insACCAAACACACCCAACACA
NM_000531.6:c.663+76_663+77insACCAAACACACCCAACACA MANE Select	NP_000522.3:n.663+76_663+77insACCAAACACACCCAACACA