Canonical Allele Identifier: CA312273585

Gene: DSTN

Linked Data

• dbSNP Id: rs1049740718
• gnomAD v3: 20-17585404-T-TATTGATTTG
• gnomAD v4: 20-17585404-T-TATTGATTTG
• MyVariant Identifiers: chr20:g.17566049_17566050insATTGATTTG (hg19) ; chr20:g.17585404_17585405insATTGATTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17585405_17585413dup , CM000682.2:g.17585405_17585413dup	GRCh38
NC_000020.10:g.17566050_17566058dup , CM000682.1:g.17566050_17566058dup	GRCh37
NC_000020.9:g.17514050_17514058dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000246069.12:c.3+15194_3+15202dup MANE Select	ENSP00000246069.6:n.3+15194_3+15202dup
ENST00000246069.11:c.3+15194_3+15202dup	ENSP00000246069.6:n.3+15194_3+15202dup
ENST00000449141.2:c.3+15194_3+15202dup	ENSP00000434355.1:n.3+15194_3+15202dup
ENST00000474024.5:c.-180-6527_-180-6519dup	ENSP00000476975.1:n.-180-6527_-180-6519du...
NM_001011546.1:c.-180-6527_-180-6519dup	NP_001011546.1:n.-180-6527_-180-6519dup
NM_006870.3:c.3+15194_3+15202dup	NP_006861.1:n.3+15194_3+15202dup
XM_011529142.1:c.3+15194_3+15202dup	XP_011527444.1:n.3+15194_3+15202dup
XM_011529143.1:c.3+15194_3+15202dup	XP_011527445.1:n.3+15194_3+15202dup
XM_011529144.1:c.-180-6527_-180-6519dup	XP_011527446.1:n.-180-6527_-180-6519dup
NM_006870.4:c.3+15194_3+15202dup MANE Select	NP_006861.1:n.3+15194_3+15202dup
NM_001011546.2:c.-180-6527_-180-6519dup	NP_001011546.1:n.-180-6527_-180-6519dup