Canonical Allele Identifier: CA2636107319

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10404253_10404257del , CM000679.2:g.10404253_10404257del GRCh38
NC_000017.10:g.10307570_10307574del , CM000679.1:g.10307570_10307574del GRCh37
NC_000017.9:g.10248295_10248299del NCBI36
NG_013015.1:g.22695_22699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.2688+74_2688+78del (MYH8) MANE Select ENSP00000384330.2:n.2688+74_2688+78del
NM_002472.2:c.2688+74_2688+78del (MYH8) NP_002463.2:n.2688+74_2688+78del
NR_125367.1:n.77-1895_77-1891del (MYHAS)
XM_011523873.1:c.2784+74_2784+78del (MYH8) XP_011522175.1:n.2784+74_2784+78del
XM_011523874.1:c.2784+74_2784+78del (MYH8) XP_011522176.1:n.2784+74_2784+78del
NM_002472.3:c.2688+74_2688+78del (MYH8) MANE Select NP_002463.2:n.2688+74_2688+78del