Canonical Allele Identifier: CA244154297

Gene: MED13L

Linked Data

• dbSNP Id: rs879786297
• MyVariant Identifiers: chr12:g.116434657_116434660del (hg19) ; chr12:g.115996852_115996855del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996854_115996857del , CM000674.2:g.115996854_115996857del	GRCh38
NC_000012.11:g.116434659_116434662del , CM000674.1:g.116434659_116434662del	GRCh37
NC_000012.10:g.114919042_114919045del	NCBI36
NG_023366.1:g.285332_285335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2790+155_2790+158del MANE Select	ENSP00000281928.3:n.2790+155_2790+158del
ENST00000548743.2:c.2760+155_2760+158del	ENSP00000448553.2:n.2760+155_2760+158del
ENST00000549786.2:c.2218+155_2218+158del
ENST00000647927.1:n.3163+155_3163+158del
ENST00000648173.1:n.1585+155_1585+158del
ENST00000648379.1:n.1158+155_1158+158del
ENST00000648737.1:n.2554+155_2554+158del
ENST00000648916.1:n.801+155_801+158del
ENST00000649607.1:c.974+155_974+158del
ENST00000650226.1:c.2790+155_2790+158del	ENSP00000496981.1:n.2790+155_2790+158del
ENST00000281928.7:c.2790+155_2790+158del	ENSP00000281928.3:n.2790+155_2790+158del
NM_015335.4:c.2790+155_2790+158del	NP_056150.1:n.2790+155_2790+158del
XM_011538080.1:c.2790+155_2790+158del	XP_011536382.1:n.2790+155_2790+158del
XM_011538081.1:c.2787+155_2787+158del	XP_011536383.1:n.2787+155_2787+158del
XM_011538082.1:c.2760+155_2760+158del	XP_011536384.1:n.2760+155_2760+158del
XM_011538080.2:c.2790+155_2790+158del	XP_011536382.1:n.2790+155_2790+158del
XM_011538081.2:c.2787+155_2787+158del	XP_011536383.1:n.2787+155_2787+158del
XM_011538082.2:c.2760+155_2760+158del	XP_011536384.1:n.2760+155_2760+158del
XM_017019090.1:c.2787+155_2787+158del	XP_016874579.1:n.2787+155_2787+158del
NM_015335.5:c.2790+155_2790+158del MANE Select	NP_056150.1:n.2790+155_2790+158del