Canonical Allele Identifier: CA2549255370

Gene: MMUT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459175_49459176insTTTTGATGTCTTGCGCCGTGTAAAGCGGCTTGACCGTGATGCCGTCAGGCGTG , CM000668.2:g.49459175_49459176insTTTTGATGTCTTGCGCCGTGTAAAGCGGCTTGACCGTGATGCCGTCAGGCGTG	GRCh38
NC_000006.11:g.49426888_49426889insTTTTGATGTCTTGCGCCGTGTAAAGCGGCTTGACCGTGATGCCGTCAGGCGTG , CM000668.1:g.49426888_49426889insTTTTGATGTCTTGCGCCGTGTAAAGCGGCTTGACCGTGATGCCGTCAGGCGTG	GRCh37
NC_000006.10:g.49534847_49534848insTTTTGATGTCTTGCGCCGTGTAAAGCGGCTTGACCGTGATGCCGTCAGGCGTG	NCBI36
NG_007100.1:g.8964_8965insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA MANE Select	ENSP00000274813.3:p.Thr98HisfsTer3
ENST00000274813.3:c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA	ENSP00000274813.3:p.Thr98HisfsTer3
NM_000255.3:c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA	NP_000246.2:p.Thr98HisfsTer3
XM_005249143.2:c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA	XP_005249200.1:p.Thr98HisfsTer3
XM_005249143.3:c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA	XP_005249200.1:p.Thr98HisfsTer3
NM_000255.4:c.291_292insCACGCCTGACGGCATCACGGTCAAGCCGCTTTACACGGCGCAAGACATCAAAA MANE Select	NP_000246.2:p.Thr98HisfsTer3