Canonical Allele Identifier: CA2617917078

Gene: LDHB

Linked Data

• gnomAD v4: 12-21641935-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21641945_21641946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000674.2:g.21641945_21641946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000012.11:g.21794879_21794880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000674.1:g.21794879_21794880insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000012.10:g.21686146_21686147insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_017038.1:g.20920_20921insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647960.1:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000497202.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000673047.2:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000500484.2:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000350669.5:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000229319.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000396075.5:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000379385.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000396076.5:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000379386.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001174097.1:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001167568.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001174097.2:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001167568.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001315537.1:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001302466.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_002300.6:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_002291.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_002300.7:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_002291.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_006719074.2:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_006719137.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001174097.3:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001167568.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001315537.2:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001302466.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_002300.8:c.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_002291.1:n.595+16_595+17insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...