Canonical Allele Identifier: CA1984131562

Gene: MYO7A

Linked Data

• dbSNP Id: rs1958049629
• gnomAD v4: 11-77214696-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214698_77214699del , CM000673.2:g.77214698_77214699del	GRCh38
NC_000011.9:g.76925743_76925744del , CM000673.1:g.76925743_76925744del	GRCh37
NC_000011.8:g.76603391_76603392del	NCBI36
NG_009086.1:g.91434_91435del
NG_009086.2:g.91453_91454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*2_*3del MANE Select	ENSP00000386331.3:n.*2_*3del
ENST00000670577.1:c.4451_4452del
ENST00000409619.6:c.*2_*3del	ENSP00000386635.2:n.*2_*3del
ENST00000409709.7:c.*2_*3del	ENSP00000386331.3:n.*2_*3del
ENST00000458169.2:c.4076_4077del	ENSP00000417017.2:n.4076_4077del
ENST00000458637.6:c.*2_*3del	ENSP00000392185.2:n.*2_*3del
ENST00000481328.7:n.5200_5201del
ENST00000605744.1:n.2164_2165del
NM_000260.3:c.*2_*3del	NP_000251.3:n.*2_*3del
NM_001127180.1:c.*2_*3del	NP_001120652.1:n.*2_*3del
XM_005274012.2:c.*2_*3del	XP_005274069.1:n.*2_*3del
XM_006718561.2:c.*2_*3del	XP_006718624.1:n.*2_*3del
XR_949941.1:n.6944_6945del
XM_017017780.1:c.*2_*3del	XP_016873269.1:n.*2_*3del
XM_017017784.1:c.*2_*3del	XP_016873273.1:n.*2_*3del
XM_017017788.1:c.*2_*3del	XP_016873277.1:n.*2_*3del
XR_001747885.1:n.6729_6730del
XR_001747887.1:n.6715_6716del
NM_000260.4:c.*2_*3del MANE Select	NP_000251.3:n.*2_*3del
NM_001127180.2:c.*2_*3del	NP_001120652.1:n.*2_*3del
NM_001369365.1:c.*2_*3del	NP_001356294.1:n.*2_*3del