Canonical Allele Identifier: CA618004327

Gene: STRC CKMT1B

Linked Data

• dbSNP Id: rs1176431498
• gnomAD v2: 15-43892734-GCT-G
• gnomAD v3: 15-43600536-GCT-G
• gnomAD v4: 15-43600536-GCT-G
• MyVariant Identifiers: chr15:g.43892735_43892736del (hg19) ; chr15:g.43600537_43600538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43600537_43600538del , CM000677.2:g.43600537_43600538del	GRCh38
NC_000015.9:g.43892735_43892736del , CM000677.1:g.43892735_43892736del	GRCh37
NC_000015.8:g.41680027_41680028del	NCBI36
NG_011636.1:g.23263_23264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4989_4990del (STRC) MANE Select	ENSP00000401513.2:p.Ala1664SerfsTer?
ENST00000411560.1:n.142+1004_142+1005del (CKMT1B)
ENST00000428650.5:c.*2022_*2023del (STRC)	ENSP00000415991.1:n.*2022_*2023del
ENST00000440125.5:c.*2781_*2782del (STRC)	ENSP00000394866.1:n.*2781_*2782del
ENST00000448437.6:n.2109_2110del (STRC)
ENST00000450892.6:c.4989_4990del (STRC)	ENSP00000401513.2:p.Ala1664SerfsTer?
ENST00000471703.5:n.2943_2944del (STRC)
ENST00000485556.5:n.3844_3845del (STRC)
ENST00000541030.5:c.2670_2671del (STRC)	ENSP00000440413.1:p.Ala891SerfsTer?
NM_153700.2:c.4989_4990del (STRC) MANE Select	NP_714544.1:p.Ala1664SerfsTer?
XM_011521277.1:c.5478_5479del (STRC)	XP_011519579.1:p.Ala1827SerfsTer?
XM_011521278.1:c.5094_5095del (STRC)	XP_011519580.1:p.Ala1699SerfsTer?
XM_011521279.1:c.5094_5095del (STRC)	XP_011519581.1:p.Ala1699SerfsTer?