Canonical Allele Identifier: CA775051713

Gene: USH1G

Linked Data

• dbSNP Id: rs1305343161
• gnomAD v3: 17-74917435-AGTACCCCCACCCCACCCCAACCC-A
• gnomAD v4: 17-74917435-AGTACCCCCACCCCACCCCAACCC-A
• MyVariant Identifiers: chr17:g.72913530_72913552del (hg19) ; chr17:g.74917436_74917458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74917437_74917459del , CM000679.2:g.74917437_74917459del	GRCh38
NC_000017.10:g.72913531_72913553del , CM000679.1:g.72913531_72913553del	GRCh37
NC_000017.9:g.70425126_70425148del	NCBI36
NG_007882.1:g.10800_10822del
NG_007882.2:g.10806_10828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.*615_*637del MANE Select	ENSP00000480279.1:n.*615_*637del
ENST00000614341.4:c.*615_*637del	ENSP00000480279.1:n.*615_*637del
NM_001282489.2:c.*615_*637del	NP_001269418.1:n.*615_*637del
NM_173477.4:c.*615_*637del	NP_775748.2:n.*615_*637del
XM_011524296.1:c.*615_*637del	XP_011522598.1:n.*615_*637del
XM_011524296.2:c.*615_*637del	XP_011522598.1:n.*615_*637del
NM_173477.5:c.*615_*637del MANE Select	NP_775748.2:n.*615_*637del
NM_001282489.3:c.*615_*637del	NP_001269418.1:n.*615_*637del