Canonical Allele Identifier: CA952761657

Gene: MTRFR CDK2AP1

Linked Data

• dbSNP Id: rs2048190954
• gnomAD v3: 12-123257041-TAG-T
• gnomAD v4: 12-123257041-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123257045_123257046del , CM000674.2:g.123257045_123257046del	GRCh38
NC_000012.11:g.123741592_123741593del , CM000674.1:g.123741592_123741593del	GRCh37
NC_000012.10:g.122307545_122307546del	NCBI36
NG_027517.1:g.28749_28750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253233.6:c.*14_*15del (MTRFR) MANE Select	ENSP00000253233.1:n.*14_*15del
ENST00000366329.7:c.*14_*15del (MTRFR)	ENSP00000390647.1:n.*14_*15del
ENST00000425637.3:c.*1232_*1233del (MTRFR)	ENSP00000506680.1:n.*1232_*1233del
ENST00000536130.2:c.*14_*15del (MTRFR)	ENSP00000443072.2:n.*14_*15del
ENST00000538888.6:c.*398_*399del (MTRFR)	ENSP00000505059.1:n.*398_*399del
ENST00000541002.7:n.809+2000_809+2001del
ENST00000543217.6:n.280+2000_280+2001del
ENST00000652466.1:c.*955+3231_*955+3232del (CDK2AP1)	ENSP00000498286.1:n.*955+3231_*955+3232del
ENST00000679849.1:c.*14_*15del (MTRFR)	ENSP00000505808.1:n.*14_*15del
ENST00000680325.1:c.*903_*904del (MTRFR)	ENSP00000505277.1:n.*903_*904del
ENST00000253233.5:c.*14_*15del (MTRFR)	ENSP00000253233.1:n.*14_*15del
ENST00000366329.6:c.*14_*15del (MTRFR)	ENSP00000390647.1:n.*14_*15del
ENST00000429587.2:c.*14_*15del (MTRFR)	ENSP00000391513.2:n.*14_*15del
NM_001143905.2:c.*14_*15del (MTRFR)	NP_001137377.1:n.*14_*15del
NM_001194995.1:c.*14_*15del (MTRFR)	NP_001181924.1:n.*14_*15del
NM_152269.4:c.*14_*15del (MTRFR)	NP_689482.1:n.*14_*15del
XM_005253630.3:c.*14_*15del (MTRFR)	XP_005253687.1:n.*14_*15del
XM_011538980.1:c.*14_*15del (MTRFR)	XP_011537282.1:n.*14_*15del
XM_011538981.1:c.*14_*15del (MTRFR)	XP_011537283.1:n.*14_*15del
XM_011538982.1:c.*14_*15del (MTRFR)	XP_011537284.1:n.*14_*15del
XR_945472.1:n.186+2000_186+2001del
XM_005253630.4:c.*14_*15del (MTRFR)	XP_005253687.1:n.*14_*15del
XM_011538980.3:c.*14_*15del (MTRFR)	XP_011537282.1:n.*14_*15del
XM_024449273.1:c.*14_*15del (MTRFR)	XP_024305041.1:n.*14_*15del
NM_152269.5:c.*14_*15del (MTRFR) MANE Select	NP_689482.1:n.*14_*15del