Canonical Allele Identifier: CA1984131550

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214685_77214688delinsAGCG , CM000673.2:g.77214685_77214688delinsAGCG	GRCh38
NC_000011.9:g.76925730_76925733delinsAGCG , CM000673.1:g.76925730_76925733delinsAGCG	GRCh37
NC_000011.8:g.76603378_76603381delinsAGCG	NCBI36
NG_009086.1:g.91421_91424delinsAGCG
NG_009086.2:g.91440_91443delinsAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6637_6640delinsAGCG MANE Select	ENSP00000386331.3:p.Ser2213=
ENST00000670577.1:c.4438_4441delinsAGCG
ENST00000409619.6:c.6490_6493delinsAGCG	ENSP00000386635.2:p.Ser2164=
ENST00000409709.7:c.6637_6640delinsAGCG	ENSP00000386331.3:p.Ser2213=
ENST00000458169.2:c.4063_4066delinsAGCG	ENSP00000417017.2:p.Ser1355=
ENST00000458637.6:c.6517_6520delinsAGCG	ENSP00000392185.2:p.Ser2173=
ENST00000481328.7:n.5187_5190delinsAGCG
ENST00000605744.1:n.2151_2154delinsAGCG
NM_000260.3:c.6637_6640delinsAGCG	NP_000251.3:p.Ser2213=
NM_001127180.1:c.6517_6520delinsAGCG	NP_001120652.1:p.Ser2173=
XM_005274012.2:c.6520_6523delinsAGCG	XP_005274069.1:p.Ser2174=
XM_006718561.2:c.6523_6526delinsAGCG	XP_006718624.1:p.Ser2175=
XR_949941.1:n.6931_6934delinsAGCG
XM_017017780.1:c.6727_6730delinsAGCG	XP_016873269.1:p.Ser2243=
XM_017017784.1:c.6610_6613delinsAGCG	XP_016873273.1:p.Ser2204=
XM_017017788.1:c.6613_6616delinsAGCG	XP_016873277.1:p.Ser2205=
XR_001747885.1:n.6716_6719delinsAGCG
XR_001747887.1:n.6702_6705delinsAGCG
NM_000260.4:c.6637_6640delinsAGCG MANE Select	NP_000251.3:p.Ser2213=
NM_001127180.2:c.6517_6520delinsAGCG	NP_001120652.1:p.Ser2173=
NM_001369365.1:c.6490_6493delinsAGCG	NP_001356294.1:p.Ser2164=