Canonical Allele Identifier: CA6776981
Community Standard Title: NM_001101421.4(MYO1H):c.3073_3078del (p.Lys1025_Asn1026del)
Gene: MYO1H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109445592_109445597del , CM000674.2:g.109445592_109445597del GRCh38
NC_000012.11:g.109883397_109883402del , CM000674.1:g.109883397_109883402del GRCh37
NC_000012.10:g.108367780_108367785del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001101421.4:c.3073_3078del MANE Select NP_001094891.4:p.Lys1025_Asn1026del
ENST00000310903.10:c.3073_3078del MANE Select ENSP00000439182.2:p.Lys1025_Asn1026del
NM_001101421.3:c.3025_3030del NP_001094891.3:p.Lys1009_Asn1010del
ENST00000310903.9:c.3073_3078del ENSP00000439182.2:p.Lys1025_Asn1026del
ENST00000431443.6:c.3025_3030del ENSP00000444076.2:p.Lys1009_Asn1010del
ENST00000542268.5:n.873_878del
ENST00000543960.1:c.337_342del ENSP00000474025.1:p.Lys113_Asn114del
XM_011538223.1:c.3091_3096del XP_011536525.1:p.Lys1031_Asn1032del
XM_011538223.2:c.3091_3096del XP_011536525.1:p.Lys1031_Asn1032del
XM_017019207.1:c.3025_3030del XP_016874696.1:p.Lys1009_Asn1010del