Canonical Allele Identifier: CA2626827468

Gene: ADSS1

Linked Data

• gnomAD v4: 14-104741137-ACCCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741138_104741142del , CM000676.2:g.104741138_104741142del	GRCh38
NC_000014.8:g.105207475_105207479del , CM000676.1:g.105207475_105207479del	GRCh37
NC_000014.7:g.104278520_104278524del	NCBI36
NG_051175.1:g.21942_21946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710323.1:c.688_692del	ENSP00000518203.1:p.Pro230GlyfsTer10
ENST00000330877.7:c.688_692del MANE Select	ENSP00000331260.2:p.Pro230GlyfsTer10
ENST00000330877.6:c.688_692del	ENSP00000331260.2:p.Pro230GlyfsTer10
ENST00000332972.9:c.817_821del	ENSP00000333019.5:p.Pro273GlyfsTer10
ENST00000553540.5:c.800_804del	ENSP00000450759.1:n.800_804del
ENST00000555486.5:c.753_757del	ENSP00000473778.1:n.753_757del
ENST00000557582.5:n.1609_1613del
NM_152328.3:c.688_692del	NP_689541.1:p.Pro230GlyfsTer10
NM_199165.1:c.817_821del	NP_954634.1:p.Pro273GlyfsTer10
XM_006720026.2:c.691_695del	XP_006720089.1:p.Pro231GlyfsTer10
XM_011536412.1:c.820_824del	XP_011534714.1:p.Pro274GlyfsTer10
XM_011536413.1:c.505_509del	XP_011534715.1:p.Pro169GlyfsTer10
XM_011536414.1:c.502_506del	XP_011534716.1:p.Pro168GlyfsTer10
XM_011536415.1:c.73_77del	XP_011534717.1:p.Pro25GlyfsTer10
NM_001320424.1:c.73_77del	NP_001307353.1:p.Pro25GlyfsTer10
NM_152328.4:c.688_692del	NP_689541.1:p.Pro230GlyfsTer10
NM_199165.2:c.817_821del	NP_954634.1:p.Pro273GlyfsTer10
XM_006720026.3:c.691_695del	XP_006720089.1:p.Pro231GlyfsTer10
XM_011536412.2:c.820_824del	XP_011534714.1:p.Pro274GlyfsTer10
NM_152328.5:c.688_692del MANE Select	NP_689541.1:p.Pro230GlyfsTer10