Canonical Allele Identifier: CA6366569

Gene: SNX19

Linked Data

• dbSNP Id: rs748319401
• ExAC: 11:130750493 AATTG / A
• gnomAD v2: 11-130750493-AATTG-A
• gnomAD v3: 11-130880598-AATTG-A
• gnomAD v4: 11-130880598-AATTG-A
• MyVariant Identifiers: chr11:g.130750494_130750497del (hg19) ; chr11:g.130880599_130880602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880601_130880604del , CM000673.2:g.130880601_130880604del	GRCh38
NC_000011.9:g.130750496_130750499del , CM000673.1:g.130750496_130750499del	GRCh37
NC_000011.8:g.130255706_130255709del	NCBI36
NG_053190.1:g.40887_40890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2758+20_2758+23del MANE Select	ENSP00000265909.4:n.2758+20_2758+23del
ENST00000265909.8:c.2758+20_2758+23del	ENSP00000265909.4:n.2758+20_2758+23del
ENST00000426933.6:c.262+20_262+23del	ENSP00000413345.2:n.262+20_262+23del
ENST00000526579.5:n.178-891_178-888del
ENST00000527116.5:n.520+20_520+23del
ENST00000528555.5:c.898+20_898+23del	ENSP00000435122.1:n.898+20_898+23del
ENST00000530330.1:n.494+20_494+23del
ENST00000530356.5:c.898+20_898+23del	ENSP00000432307.1:n.898+20_898+23del
ENST00000533318.5:n.1118+20_1118+23del
ENST00000534726.5:c.478+20_478+23del	ENSP00000433699.1:n.478+20_478+23del
NM_001301089.1:c.898+20_898+23del	NP_001288018.1:n.898+20_898+23del
NM_014758.2:c.2758+20_2758+23del	NP_055573.2:n.2758+20_2758+23del
XM_005271546.3:c.2574-891_2574-888del	XP_005271603.1:n.2574-891_2574-888del
XM_011542819.1:c.3004+20_3004+23del	XP_011541121.1:n.3004+20_3004+23del
XM_011542820.1:c.2992+20_2992+23del	XP_011541122.1:n.2992+20_2992+23del
XM_011542821.1:c.2884+20_2884+23del	XP_011541123.1:n.2884+20_2884+23del
XM_011542824.1:c.2122+20_2122+23del	XP_011541126.1:n.2122+20_2122+23del
XM_011542825.1:c.1279+20_1279+23del	XP_011541127.1:n.1279+20_1279+23del
XM_011542826.1:c.1144+20_1144+23del	XP_011541128.1:n.1144+20_1144+23del
XM_011542827.1:c.1024+20_1024+23del	XP_011541129.1:n.1024+20_1024+23del
NM_001347918.1:c.2638+20_2638+23del	NP_001334847.1:n.2638+20_2638+23del
NM_001347919.1:c.2574-891_2574-888del	NP_001334848.1:n.2574-891_2574-888del
NM_001347922.1:c.1087+20_1087+23del	NP_001334851.1:n.1087+20_1087+23del
NM_001347923.1:c.1033+20_1033+23del	NP_001334852.1:n.1033+20_1033+23del
NM_001347924.1:c.778+20_778+23del	NP_001334853.1:n.778+20_778+23del
NM_001347925.1:c.724+20_724+23del	NP_001334854.1:n.724+20_724+23del
NM_001347926.1:c.714-891_714-888del	NP_001334855.1:n.714-891_714-888del
NM_001347927.1:c.478+20_478+23del	NP_001334856.1:n.478+20_478+23del
NR_144939.1:n.3391+20_3391+23del
XM_011542820.2:c.2992+20_2992+23del	XP_011541122.1:n.2992+20_2992+23del
XM_011542821.3:c.2884+20_2884+23del	XP_011541123.1:n.2884+20_2884+23del
XM_011542824.2:c.2122+20_2122+23del	XP_011541126.1:n.2122+20_2122+23del
XM_011542825.2:c.1279+20_1279+23del	XP_011541127.1:n.1279+20_1279+23del
XM_011542826.2:c.1144+20_1144+23del	XP_011541128.1:n.1144+20_1144+23del
XM_024448521.1:c.3004+20_3004+23del	XP_024304289.1:n.3004+20_3004+23del
XR_001747870.1:n.3829+20_3829+23del
XR_001747872.1:n.3175+20_3175+23del
XR_001747873.1:n.3489+20_3489+23del
NM_001301089.2:c.898+20_898+23del	NP_001288018.1:n.898+20_898+23del
NM_001347918.2:c.2638+20_2638+23del	NP_001334847.2:n.2638+20_2638+23del
NM_001347919.2:c.2574-891_2574-888del	NP_001334848.2:n.2574-891_2574-888del
NM_001347920.2:c.*21174_*21177del	NP_001334849.2:n.*21174_*21177del
NM_001347922.2:c.1087+20_1087+23del	NP_001334851.2:n.1087+20_1087+23del
NM_001347923.2:c.1033+20_1033+23del	NP_001334852.2:n.1033+20_1033+23del
NM_001347924.2:c.778+20_778+23del	NP_001334853.1:n.778+20_778+23del
NM_001347925.2:c.724+20_724+23del	NP_001334854.1:n.724+20_724+23del
NM_001347926.2:c.714-891_714-888del	NP_001334855.1:n.714-891_714-888del
NM_001347927.2:c.478+20_478+23del	NP_001334856.1:n.478+20_478+23del
NM_014758.3:c.2758+20_2758+23del MANE Select	NP_055573.3:n.2758+20_2758+23del
NR_144939.2:n.3383+20_3383+23del