Canonical Allele Identifier: CA440603631

Gene: BANK1

Linked Data

• dbSNP Id: rs1343414585
• gnomAD v2: 4-102865194-T-TGA
• gnomAD v3: 4-101944037-T-TGA
• gnomAD v4: 4-101944037-T-TGA
• MyVariant Identifiers: chr4:g.102865196_102865202delinsAGTGAGAGA (hg19) ; chr4:g.102865194_102865195insGA (hg19) ; chr4:g.101944039_101944045delinsAGTGAGAGA (hg38) ; chr4:g.101944037_101944038insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.101944038_101944039insAG , CM000666.2:g.101944038_101944039insAG	GRCh38
NC_000004.11:g.102865195_102865196insAG , CM000666.1:g.102865195_102865196insAG	GRCh37
NC_000004.10:g.103084218_103084219insAG	NCBI36
NG_015824.1:g.158432_158433insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322953.9:c.1206+25849_1206+25850insAG MANE Select	ENSP00000320509.4:n.1206+25849_1206+25850insAG
ENST00000322953.8:c.1206+25849_1206+25850insAG	ENSP00000320509.4:n.1206+25849_1206+25850insAG
ENST00000428908.5:c.807+25849_807+25850insAG	ENSP00000412748.1:n.807+25849_807+25850insAG
ENST00000444316.2:c.1116+25849_1116+25850insAG	ENSP00000388817.2:n.1116+25849_1116+25850insAG
ENST00000504592.5:c.1161+25849_1161+25850insAG	ENSP00000421443.1:n.1161+25849_1161+25850insAG
ENST00000508653.5:c.807+25849_807+25850insAG	ENSP00000422314.1:n.807+25849_807+25850insAG
NM_001083907.2:c.1116+25849_1116+25850insAG	NP_001077376.2:n.1116+25849_1116+25850insAG
NM_001127507.2:c.807+25849_807+25850insAG	NP_001120979.2:n.807+25849_807+25850insAG
NM_017935.4:c.1206+25849_1206+25850insAG	NP_060405.4:n.1206+25849_1206+25850insAG
XM_017008337.2:c.1116+25849_1116+25850insAG	XP_016863826.1:n.1116+25849_1116+25850insAG
NM_017935.5:c.1206+25849_1206+25850insAG MANE Select	NP_060405.5:n.1206+25849_1206+25850insAG
NM_001083907.3:c.1116+25849_1116+25850insAG	NP_001077376.3:n.1116+25849_1116+25850insAG
NM_001127507.3:c.807+25849_807+25850insAG	NP_001120979.3:n.807+25849_807+25850insAG