Canonical Allele Identifier: CA2615256015

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77181960-CGAGGGCGGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77181964_77181974del , CM000673.2:g.77181964_77181974del	GRCh38
NC_000011.9:g.76893010_76893020del , CM000673.1:g.76893010_76893020del	GRCh37
NC_000011.8:g.76570658_76570668del	NCBI36
NG_009086.1:g.58701_58711del
NG_009086.2:g.58719_58729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.2918_2928del MANE Select	ENSP00000386331.3:p.Gly973AspfsTer14
ENST00000409893.6:c.983_993del	ENSP00000386689.2:p.Gly328AspfsTer14
ENST00000670577.1:c.759_769del
ENST00000409619.6:c.2885_2895del	ENSP00000386635.2:p.Gly962AspfsTer14
ENST00000409709.7:c.2918_2928del	ENSP00000386331.3:p.Gly973AspfsTer14
ENST00000409893.5:c.2918_2928del	ENSP00000386689.1:p.Gly973AspfsTer14
ENST00000458169.2:c.461_471del	ENSP00000417017.2:p.Gly154AspfsTer14
ENST00000458637.6:c.2918_2928del	ENSP00000392185.2:p.Gly973AspfsTer14
ENST00000481328.7:n.461_471del
ENST00000620575.4:c.2918_2928del	ENSP00000477640.1:p.Gly973AspfsTer14
NM_000260.3:c.2918_2928del	NP_000251.3:p.Gly973AspfsTer14
NM_001127179.2:c.2918_2928del	NP_001120651.2:p.Gly973AspfsTer14
NM_001127180.1:c.2918_2928del	NP_001120652.1:p.Gly973AspfsTer14
XM_005274012.2:c.2918_2928del	XP_005274069.1:p.Gly973AspfsTer14
XM_006718558.2:c.2918_2928del	XP_006718621.1:p.Gly973AspfsTer14
XM_006718559.2:c.2918_2928del	XP_006718622.1:p.Gly973AspfsTer14
XM_006718560.2:c.2918_2928del	XP_006718623.1:p.Gly973AspfsTer14
XM_006718561.2:c.2918_2928del	XP_006718624.1:p.Gly973AspfsTer14
XM_011545044.1:c.2918_2928del	XP_011543346.1:p.Gly973AspfsTer14
XM_011545045.1:c.2918_2928del	XP_011543347.1:p.Gly973AspfsTer14
XM_011545046.1:c.2885_2895del	XP_011543348.1:p.Gly962AspfsTer14
XM_011545047.1:c.2918_2928del	XP_011543349.1:p.Gly973AspfsTer14
XM_011545048.1:c.2699_2709del	XP_011543350.1:p.Gly900AspfsTer14
XM_011545049.1:c.2687_2697del	XP_011543351.1:p.Gly896AspfsTer14
XM_011545050.1:c.2660_2670del	XP_011543352.1:p.Gly887AspfsTer14
XM_011545051.1:c.2918_2928del	XP_011543353.1:p.Gly973AspfsTer14
XM_011545052.1:c.2918_2928del	XP_011543354.1:p.Gly973AspfsTer14
XR_949938.1:n.3238_3248del
XR_949941.1:n.3238_3248del
XR_949942.1:n.3240_3250del
XR_949943.1:n.3240_3250del
XM_011545044.2:c.2918_2928del	XP_011543346.1:p.Gly973AspfsTer14
XM_011545046.2:c.3008_3018del	XP_011543348.2:p.Gly1003AspfsTer14
XM_011545050.2:c.2660_2670del	XP_011543352.1:p.Gly887AspfsTer14
XM_017017778.1:c.3008_3018del	XP_016873267.1:p.Gly1003AspfsTer14
XM_017017779.1:c.3008_3018del	XP_016873268.1:p.Gly1003AspfsTer14
XM_017017780.1:c.3008_3018del	XP_016873269.1:p.Gly1003AspfsTer14
XM_017017781.1:c.3008_3018del	XP_016873270.1:p.Gly1003AspfsTer14
XM_017017782.1:c.3008_3018del	XP_016873271.1:p.Gly1003AspfsTer14
XM_017017783.1:c.3008_3018del	XP_016873272.1:p.Gly1003AspfsTer14
XM_017017784.1:c.3008_3018del	XP_016873273.1:p.Gly1003AspfsTer14
XM_017017785.1:c.2777_2787del	XP_016873274.1:p.Gly926AspfsTer14
XM_017017786.1:c.3008_3018del	XP_016873275.1:p.Gly1003AspfsTer14
XM_017017787.1:c.3008_3018del	XP_016873276.1:p.Gly1003AspfsTer14
XM_017017788.1:c.3008_3018del	XP_016873277.1:p.Gly1003AspfsTer14
XR_001747885.1:n.3023_3033del
XR_001747886.1:n.3023_3033del
XR_001747887.1:n.3023_3033del
XR_001747888.1:n.3023_3033del
XR_001747889.1:n.3023_3033del
NM_000260.4:c.2918_2928del MANE Select	NP_000251.3:p.Gly973AspfsTer14
NM_001127180.2:c.2918_2928del	NP_001120652.1:p.Gly973AspfsTer14
NM_001369365.1:c.2885_2895del	NP_001356294.1:p.Gly962AspfsTer14