Canonical Allele Identifier: CA3654750

Gene: DCDC2

Linked Data

• dbSNP Id: rs745462287
• ExAC: 6:24302049 TTA / T
• gnomAD v2: 6-24302049-TTA-T
• gnomAD v3: 6-24301821-TTA-T
• gnomAD v4: 6-24301821-TTA-T
• MyVariant Identifiers: chr6:g.24302050_24302051del (hg19) ; chr6:g.24301822_24301823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24301823_24301824del , CM000668.2:g.24301823_24301824del	GRCh38
NC_000006.11:g.24302051_24302052del , CM000668.1:g.24302051_24302052del	GRCh37
NC_000006.10:g.24410030_24410031del	NCBI36
NG_012829.1:g.61230_61231del
NG_012829.2:g.86470_86471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.449_450del MANE Select	ENSP00000367715.3:p.Ile150LysfsTer?
ENST00000378454.7:c.449_450del	ENSP00000367715.3:p.Ile150LysfsTer?
NM_001195610.1:c.449_450del	NP_001182539.1:p.Ile150LysfsTer?
NM_016356.4:c.449_450del	NP_057440.2:p.Ile150LysfsTer?
NM_016356.5:c.449_450del MANE Select	NP_057440.2:p.Ile150LysfsTer?
NM_001195610.2:c.449_450del	NP_001182539.1:p.Ile150LysfsTer?