Canonical Allele Identifier: CA607651464

Gene: MED13L

Linked Data

• dbSNP Id: rs1194759857
• gnomAD v2: 12-116420693-ATAGT-A
• gnomAD v3: 12-115982888-ATAGT-A
• gnomAD v4: 12-115982888-ATAGT-A
• MyVariant Identifiers: chr12:g.116420694_116420697del (hg19) ; chr12:g.115982889_115982892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982889_115982892del , CM000674.2:g.115982889_115982892del	GRCh38
NC_000012.11:g.116420694_116420697del , CM000674.1:g.116420694_116420697del	GRCh37
NC_000012.10:g.114905077_114905080del	NCBI36
NG_023366.1:g.299295_299298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4955+225_4955+228del MANE Select	ENSP00000281928.3:n.4955+225_4955+228del
ENST00000549786.2:c.4383+225_4383+228del
ENST00000648379.1:n.3323+225_3323+228del
ENST00000648737.1:n.4719+225_4719+228del
ENST00000648825.1:n.1695+225_1695+228del
ENST00000648916.1:n.2966+225_2966+228del
ENST00000649146.1:n.1910_1913del
ENST00000649607.1:c.3139+225_3139+228del
ENST00000649775.1:c.1452+225_1452+228del
ENST00000650226.1:c.4955+225_4955+228del	ENSP00000496981.1:n.4955+225_4955+228del
ENST00000281928.7:c.4955+225_4955+228del	ENSP00000281928.3:n.4955+225_4955+228del
ENST00000549786.1:c.319+225_319+228del
NM_015335.4:c.4955+225_4955+228del	NP_056150.1:n.4955+225_4955+228del
XM_011538080.1:c.4955+225_4955+228del	XP_011536382.1:n.4955+225_4955+228del
XM_011538081.1:c.4952+225_4952+228del	XP_011536383.1:n.4952+225_4952+228del
XM_011538082.1:c.4925+225_4925+228del	XP_011536384.1:n.4925+225_4925+228del
XM_011538080.2:c.4955+225_4955+228del	XP_011536382.1:n.4955+225_4955+228del
XM_011538081.2:c.4952+225_4952+228del	XP_011536383.1:n.4952+225_4952+228del
XM_011538082.2:c.4925+225_4925+228del	XP_011536384.1:n.4925+225_4925+228del
XM_017019090.1:c.4952+225_4952+228del	XP_016874579.1:n.4952+225_4952+228del
NM_015335.5:c.4955+225_4955+228del MANE Select	NP_056150.1:n.4955+225_4955+228del