Canonical Allele Identifier: CA1396274

Gene: USH2A

Linked Data

• dbSNP Id: rs771952509
• ExAC: 1:216420576 TAAAATATATTTAA / T
• gnomAD v2: 1-216420576-TAAAATATATTTAA-T
• gnomAD v4: 1-216247234-TAAAATATATTTAA-T
• MyVariant Identifiers: chr1:g.216420577_216420589del (hg19) ; chr1:g.216247235_216247247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247237_216247249del , CM000663.2:g.216247237_216247249del	GRCh38
NC_000001.10:g.216420579_216420591del , CM000663.1:g.216420579_216420591del	GRCh37
NC_000001.9:g.214487202_214487214del	NCBI36
NG_009497.1:g.181150_181162del
NG_009497.2:g.181202_181214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2168-21_2168-9del MANE Select	ENSP00000305941.3:n.2168-21_2168-9del
ENST00000674083.1:c.2168-21_2168-9del	ENSP00000501296.1:n.2168-21_2168-9del
ENST00000307340.7:c.2168-21_2168-9del	ENSP00000305941.3:n.2168-21_2168-9del
ENST00000366942.3:c.2168-21_2168-9del	ENSP00000355909.3:n.2168-21_2168-9del
NM_007123.5:c.2168-21_2168-9del	NP_009054.5:n.2168-21_2168-9del
NM_206933.2:c.2168-21_2168-9del	NP_996816.2:n.2168-21_2168-9del
NM_206933.3:c.2168-21_2168-9del	NP_996816.2:n.2168-21_2168-9del
NM_007123.6:c.2168-21_2168-9del	NP_009054.6:n.2168-21_2168-9del
NM_206933.4:c.2168-21_2168-9del MANE Select	NP_996816.3:n.2168-21_2168-9del