Canonical Allele Identifier: CA684023449

Gene: MED13L

Linked Data

• dbSNP Id: rs1255808844
• MyVariant Identifiers: chr12:g.116429493_116429495del (hg19) ; chr12:g.115991688_115991690del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991692_115991694del , CM000674.2:g.115991692_115991694del	GRCh38
NC_000012.11:g.116429497_116429499del , CM000674.1:g.116429497_116429499del	GRCh37
NC_000012.10:g.114913880_114913882del	NCBI36
NG_023366.1:g.290497_290499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3264_3266del MANE Select	ENSP00000281928.3:p.Thr1089del
ENST00000548743.2:c.3234_3236del	ENSP00000448553.2:p.Thr1079del
ENST00000549786.2:c.2692_2694del
ENST00000648379.1:n.1632_1634del
ENST00000648737.1:n.3028_3030del
ENST00000648916.1:n.1275_1277del
ENST00000649607.1:c.1448_1450del
ENST00000650226.1:c.3264_3266del	ENSP00000496981.1:p.Thr1089del
ENST00000281928.7:c.3264_3266del	ENSP00000281928.3:p.Thr1089del
NM_015335.4:c.3264_3266del	NP_056150.1:p.Thr1089del
XM_011538080.1:c.3264_3266del	XP_011536382.1:p.Thr1089del
XM_011538081.1:c.3261_3263del	XP_011536383.1:p.Thr1088del
XM_011538082.1:c.3234_3236del	XP_011536384.1:p.Thr1079del
XM_011538080.2:c.3264_3266del	XP_011536382.1:p.Thr1089del
XM_011538081.2:c.3261_3263del	XP_011536383.1:p.Thr1088del
XM_011538082.2:c.3234_3236del	XP_011536384.1:p.Thr1079del
XM_017019090.1:c.3261_3263del	XP_016874579.1:p.Thr1088del
NM_015335.5:c.3264_3266del MANE Select	NP_056150.1:p.Thr1089del