Canonical Allele Identifier: CA135265447

Gene: DTNBP1

Linked Data

• dbSNP Id: rs777013047
• gnomAD v2: 6-15633601-GCC-G
• gnomAD v3: 6-15633370-GCC-G
• gnomAD v4: 6-15633370-GCC-G
• MyVariant Identifiers: chr6:g.15633602_15633603del (hg19) ; chr6:g.15633371_15633372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.15633371_15633372del , CM000668.2:g.15633371_15633372del	GRCh38
NC_000006.11:g.15633602_15633603del , CM000668.1:g.15633602_15633603del	GRCh37
NC_000006.10:g.15741581_15741582del	NCBI36
NG_009309.1:g.34669_34670del , LRG_588:g.34669_34670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344537.10:c.222+4372_222+4373del MANE Select	ENSP00000341680.6:n.222+4372_222+4373del
ENST00000338950.9:c.222+4372_222+4373del	ENSP00000344718.5:n.222+4372_222+4373del
ENST00000344537.9:c.222+4372_222+4373del	ENSP00000341680.5:n.222+4372_222+4373del
ENST00000355917.7:c.171+4372_171+4373del	ENSP00000348183.4:n.171+4372_171+4373del
ENST00000506844.1:c.*220+4372_*220+4373del	ENSP00000424202.1:n.*220+4372_*220+4373del
ENST00000510395.5:c.*132+4372_*132+4373del	ENSP00000424685.1:n.*132+4372_*132+4373del
ENST00000511762.2:c.117+4372_117+4373del	ENSP00000427473.2:n.117+4372_117+4373del
ENST00000513680.5:c.*220+4372_*220+4373del	ENSP00000424357.1:n.*220+4372_*220+4373del
ENST00000515875.5:c.171+4372_171+4373del	ENSP00000425495.1:n.171+4372_171+4373del
ENST00000622898.4:c.117+4372_117+4373del	ENSP00000481997.1:n.117+4372_117+4373del
NM_001271667.1:c.-22+4372_-22+4373del	NP_001258596.1:n.-22+4372_-22+4373del
NM_001271668.1:c.171+4372_171+4373del	NP_001258597.1:n.171+4372_171+4373del
NM_001271669.1:c.117+4372_117+4373del	NP_001258598.1:n.117+4372_117+4373del
NM_032122.4:c.222+4372_222+4373del , LRG_588t1:c.222+4372_222+4373del	NP_115498.2:n.222+4372_222+4373del
NM_183040.2:c.222+4372_222+4373del , LRG_588t2:c.222+4372_222+4373del	NP_898861.1:n.222+4372_222+4373del
NR_036448.1:n.550+4372_550+4373del
XM_005249447.3:c.183+4372_183+4373del	XP_005249504.1:n.183+4372_183+4373del
XM_011514936.1:c.132+4372_132+4373del	XP_011513238.1:n.132+4372_132+4373del
XM_005249447.4:c.183+4372_183+4373del	XP_005249504.1:n.183+4372_183+4373del
XM_011514936.3:c.132+4372_132+4373del	XP_011513238.1:n.132+4372_132+4373del
NM_032122.5:c.222+4372_222+4373del MANE Select	NP_115498.2:n.222+4372_222+4373del
NR_036448.2:n.520+4372_520+4373del
NM_001271667.2:c.-22+4372_-22+4373del	NP_001258596.1:n.-22+4372_-22+4373del
NM_001271668.2:c.171+4372_171+4373del	NP_001258597.1:n.171+4372_171+4373del
NM_001271669.2:c.117+4372_117+4373del	NP_001258598.1:n.117+4372_117+4373del
NR_036448.3:n.520+4372_520+4373del