Canonical Allele Identifier: CA2275255479

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920178_74920181delinsGCTT , CM000679.2:g.74920178_74920181delinsGCTT	GRCh38
NC_000017.10:g.72916273_72916276delinsGCTT , CM000679.1:g.72916273_72916276delinsGCTT	GRCh37
NC_000017.9:g.70427868_70427871delinsGCTT	NCBI36
NG_007882.1:g.8076_8079delinsAAGC
NG_033062.1:g.904_907delinsGCTT
NG_007882.2:g.8083_8086delinsAAGC
NG_033062.2:g.904_907delinsGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.655_658delinsAAGC MANE Select	ENSP00000480279.1:p.Lys219=
ENST00000579243.1:c.*254_*257delinsAAGC	ENSP00000462568.1:n.*254_*257delinsAAGC
ENST00000614341.4:c.655_658delinsAAGC	ENSP00000480279.1:p.Lys219=
NM_001282489.2:c.346_349delinsAAGC	NP_001269418.1:p.Lys116=
NM_173477.4:c.655_658delinsAAGC	NP_775748.2:p.Lys219=
XM_011524296.1:c.346_349delinsAAGC	XP_011522598.1:p.Lys116=
XM_011524296.2:c.346_349delinsAAGC	XP_011522598.1:p.Lys116=
NM_173477.5:c.655_658delinsAAGC MANE Select	NP_775748.2:p.Lys219=
NM_001282489.3:c.346_349delinsAAGC	NP_001269418.1:p.Lys116=