Canonical Allele Identifier: CA2665559768

Gene: DHX30

Linked Data

• gnomAD v4: 3-47848780-TCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47848788_47848790del , CM000665.2:g.47848788_47848790del	GRCh38
NC_000003.11:g.47890278_47890280del , CM000665.1:g.47890278_47890280del	GRCh37
NC_000003.10:g.47865282_47865284del	NCBI36
NG_052840.1:g.245497_245499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445061.6:c.2740_2742del MANE Select	ENSP00000405620.1:p.Ser914del
ENST00000348968.8:c.2656_2658del	ENSP00000343442.4:p.Ser886del
ENST00000395745.6:c.*2640_*2642del	ENSP00000379094.2:n.*2640_*2642del
ENST00000445061.5:c.2740_2742del	ENSP00000405620.1:p.Ser914del
ENST00000446256.6:c.2740_2742del	ENSP00000392601.3:p.Ser914del
ENST00000457607.1:c.2824_2826del	ENSP00000394682.1:p.Ser942del
ENST00000474183.1:n.857_859del
ENST00000619982.4:c.2623_2625del	ENSP00000483160.1:p.Ser875del
NM_014966.3:c.2623_2625del	NP_055781.2:p.Ser875del
NM_138615.2:c.2740_2742del	NP_619520.1:p.Ser914del
XM_006713033.1:c.2644_2646del	XP_006713096.1:p.Ser882del
XM_011533490.1:c.2953_2955del	XP_011531792.1:p.Ser985del
XM_011533491.1:c.2953_2955del	XP_011531793.1:p.Ser985del
XM_011533492.1:c.2953_2955del	XP_011531794.1:p.Ser985del
XM_011533493.1:c.2842_2844del	XP_011531795.1:p.Ser948del
XM_011533494.1:c.2740_2742del	XP_011531796.1:p.Ser914del
XM_011533495.1:c.2740_2742del	XP_011531797.1:p.Ser914del
XM_011533496.1:c.2656_2658del	XP_011531798.1:p.Ser886del
XM_011533497.1:c.2656_2658del	XP_011531799.1:p.Ser886del
XM_011533498.1:c.2656_2658del	XP_011531800.1:p.Ser886del
NM_001330990.1:c.2656_2658del	NP_001317919.1:p.Ser886del
XM_011533490.2:c.2953_2955del	XP_011531792.1:p.Ser985del
XM_011533494.3:c.2740_2742del	XP_011531796.1:p.Ser914del
XM_011533495.2:c.2740_2742del	XP_011531797.1:p.Ser914del
XM_011533497.2:c.2656_2658del	XP_011531799.1:p.Ser886del
XM_017005914.1:c.2872_2874del	XP_016861403.1:p.Ser958del
XM_017005915.1:c.2644_2646del	XP_016861404.1:p.Ser882del
XM_017005916.2:c.2629_2631del	XP_016861405.1:p.Ser877del
XM_017005917.1:c.2623_2625del	XP_016861406.1:p.Ser875del
XM_024453405.1:c.2842_2844del	XP_024309173.1:p.Ser948del
NM_138615.3:c.2740_2742del MANE Select	NP_619520.1:p.Ser914del
NM_001330990.2:c.2656_2658del	NP_001317919.1:p.Ser886del
NM_014966.4:c.2623_2625del	NP_055781.2:p.Ser875del