Canonical Allele Identifier: CA488457357

Gene: ADSS1

Linked Data

• ClinVar Variation Id: 1681965
• ClinVar RCV Id: RCV002236707
• dbSNP Id: rs1566800987
• gnomAD v2: 14-105207532-AAGATCCTGGT-A
• gnomAD v3: 14-104741195-AAGATCCTGGT-A
• gnomAD v4: 14-104741195-AAGATCCTGGT-A
• MyVariant Identifiers: chr14:g.105207533_105207542del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741196_104741205del , CM000676.2:g.104741196_104741205del	GRCh38
NC_000014.8:g.105207533_105207542del , CM000676.1:g.105207533_105207542del	GRCh37
NC_000014.7:g.104278578_104278587del	NCBI36
NG_051175.1:g.22000_22009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.746_755del	ENSP00000518203.1:p.Lys249ArgfsTer19
ENST00000330877.7:c.746_755del MANE Select	ENSP00000331260.2:p.Lys249ArgfsTer19
ENST00000330877.6:c.746_755del	ENSP00000331260.2:p.Lys249ArgfsTer19
ENST00000332972.9:c.875_884del	ENSP00000333019.5:p.Lys292ArgfsTer19
ENST00000553540.5:c.858_867del	ENSP00000450759.1:n.858_867del
ENST00000555486.5:c.811_820del	ENSP00000473778.1:n.811_820del
ENST00000557582.5:n.1667_1676del
NM_152328.3:c.746_755del	NP_689541.1:p.Lys249ArgfsTer19
NM_199165.1:c.875_884del	NP_954634.1:p.Lys292ArgfsTer19
XM_006720026.2:c.749_758del	XP_006720089.1:p.Lys250ArgfsTer19
XM_011536412.1:c.878_887del	XP_011534714.1:p.Lys293ArgfsTer19
XM_011536413.1:c.563_572del	XP_011534715.1:p.Lys188ArgfsTer19
XM_011536414.1:c.560_569del	XP_011534716.1:p.Lys187ArgfsTer19
XM_011536415.1:c.131_140del	XP_011534717.1:p.Lys44ArgfsTer19
NM_001320424.1:c.131_140del	NP_001307353.1:p.Lys44ArgfsTer19
NM_152328.4:c.746_755del	NP_689541.1:p.Lys249ArgfsTer19
NM_199165.2:c.875_884del	NP_954634.1:p.Lys292ArgfsTer19
XM_006720026.3:c.749_758del	XP_006720089.1:p.Lys250ArgfsTer19
XM_011536412.2:c.878_887del	XP_011534714.1:p.Lys293ArgfsTer19
XR_001750917.1:n.504_513del
NM_152328.5:c.746_755del MANE Select	NP_689541.1:p.Lys249ArgfsTer19