Canonical Allele Identifier: CA2546983934

Gene: TTC19

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028722_16028723insTCTTTTTCCTTAGGTAAATGGCTA , CM000679.2:g.16028722_16028723insTCTTTTTCCTTAGGTAAATGGCTA	GRCh38
NC_000017.10:g.15932036_15932037insTCTTTTTCCTTAGGTAAATGGCTA , CM000679.1:g.15932036_15932037insTCTTTTTCCTTAGGTAAATGGCTA	GRCh37
NC_000017.9:g.15872761_15872762insTCTTTTTCCTTAGGTAAATGGCTA	NCBI36
NG_029806.1:g.34343_34344insTCTTTTTCCTTAGGTAAATGGCTA
NG_047111.1:g.193024_193025insTAGCCATTTACCTAAGGAAAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA MANE Select	ENSP00000261647.5:n.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA
ENST00000261647.9:c.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA	ENSP00000261647.5:n.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA
ENST00000465567.1:n.2737_2738insTCTTTTTCCTTAGGTAAATGGCTA
ENST00000470649.1:c.247+2020_247+2021insTCTTTTTCCTTAGGTAAATGGCTA	ENSP00000465627.1:n.247+2020_247+2021insTCTTTTTCCTTAGGTAAATGG...
ENST00000475723.5:c.2527_2528insTCTTTTTCCTTAGGTAAATGGCTA
ENST00000481107.1:n.3011_3012insTCTTTTTCCTTAGGTAAATGGCTA
NM_001271420.1:c.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA	NP_001258349.1:n.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA
NM_017775.3:c.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA	NP_060245.3:n.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA
XM_017024801.2:c.994+2020_994+2021insTCTTTTTCCTTAGGTAAATGGCTA	XP_016880290.2:n.994+2020_994+2021insTCTTTTTCCTTAGGTAAATGGCTA...
XM_017024802.2:c.994+2020_994+2021insTCTTTTTCCTTAGGTAAATGGCTA	XP_016880291.2:n.994+2020_994+2021insTCTTTTTCCTTAGGTAAATGGCTA...
NM_017775.4:c.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA MANE Select	NP_060245.3:n.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA
NM_001271420.2:c.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA	NP_001258349.1:n.*1200_*1201insTCTTTTTCCTTAGGTAAATGGCTA