Canonical Allele Identifier: CA1335310426

Gene: CHRND

Linked Data

• dbSNP Id: rs1691558163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528313_232528314dup , CM000664.2:g.232528313_232528314dup	GRCh38
NC_000002.11:g.233393023_233393024dup , CM000664.1:g.233393023_233393024dup	GRCh37
NC_000002.10:g.233101267_233101268dup	NCBI36
NG_008028.1:g.7102_7103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.295_296dup MANE Select	ENSP00000258385.3:p.Ser99ArgfsTer?
ENST00000258385.7:c.295_296dup	ENSP00000258385.3:p.Ser99ArgfsTer?
ENST00000412233.5:c.295_296dup	ENSP00000398143.1:p.Ser99ArgfsTer?
ENST00000441621.6:c.295_296dup	ENSP00000408819.2:p.Ser99ArgfsTer?
ENST00000446616.1:c.295_296dup	ENSP00000410801.1:p.Ser99ArgfsTer?
ENST00000449596.5:c.250_251dup	ENSP00000404950.1:p.Ser84ArgfsTer?
ENST00000543200.5:c.250_251dup	ENSP00000438380.1:p.Ser84ArgfsTer?
NM_000751.2:c.295_296dup	NP_000742.1:p.Ser99ArgfsTer?
NM_001256657.1:c.250_251dup	NP_001243586.1:p.Ser84ArgfsTer?
NM_001311195.1:c.24_25dup	NP_001298124.1:p.Val9GlufsTer22
NM_001311196.1:c.24_25dup	NP_001298125.1:p.Val9GlufsTer?
NR_046333.1:c.-4294966945_-4294966944dup
NR_046334.1:c.-4294966945_-4294966944dup
XM_011510524.1:c.24_25dup	XP_011508826.1:p.Val9GlufsTer22
XM_011510524.2:c.24_25dup	XP_011508826.1:p.Val9GlufsTer22
NM_000751.3:c.295_296dup MANE Select	NP_000742.1:p.Ser99ArgfsTer?
NM_001311195.2:c.24_25dup	NP_001298124.1:p.Val9GlufsTer22
NM_001311196.2:c.24_25dup	NP_001298125.1:p.Val9GlufsTer?
NM_001256657.2:c.250_251dup	NP_001243586.1:p.Ser84ArgfsTer?